status: PUBLIC

characteristic: SRA accession

text: human

characteristic: common name

text: Family 32 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

characteristic: description

text: Homo sapiens

characteristic: organism

text: Homo sapiens

characteristic: scientific name

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.

characteristic: submission description

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping

characteristic: submission title

BGI Genomics

Address: Central Avenue 55, Airport Business Park East Building E3

Chao Chen

FirstName: Chao

LastName: Chen


text: human

text: Family 9 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F23-maternal plasma

text: human

text: Family 23 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F52-maternal plasma

text: human

text: Family 52 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F30-maternal plasma

text: human

text: Family 30 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 18 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F26-maternal plasma

text: human

text: Family 26 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 51 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F05-maternal plasma

text: human

text: Family 5 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 12 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 14 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 22 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 7 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 59 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F48-maternal plasma

text: human

text: Family 48 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 41 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F49-maternal plasma

text: human

text: Family 49 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


text: human

text: Family 24 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


text: human

text: Family 15 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 56 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 6 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 58 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 28 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 38 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 23 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 44 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 8 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 9 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 3 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 53 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F20-maternal plasma

text: human

text: Family 20 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F27-maternal plasma

text: human

text: Family 27 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 40 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


text: human

text: Family 17 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


text: human

text: Family 50 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 51 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F35-maternal plasma

text: human

text: Family 35 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F29-maternal plasma

text: human

text: Family 29 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F57-maternal plasma

text: human

text: Family 57 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F15-maternal plasma

text: human

text: Family 15 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 39 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F04-fetal sister

text: human

text: Family 4 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 21 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 16 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 26 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 19 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F22-maternal plasma

text: human

text: Family 22 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 20 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F16-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


text: human

text: Family 52 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 42 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


F50-maternal plasma

text: human

text: Family 50 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 33 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F01-maternal plasma

text: human

text: Family 1 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 5 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F47-maternal plasma

text: human

text: Family 47 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F28-maternal plasma

text: human

text: Family 28 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F21-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 37 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 58 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F55-maternal plasma

text: human

text: Family 55 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F51-maternal plasma

text: human

text: Family 51 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 43 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 34 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F04-maternal plasma

text: human

text: Family 4 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 29 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


text: human

text: Family 18 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 48 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


text: human

text: Family 44 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 13 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F45-maternal plasma

text: human

text: Family 45 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 7 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 57 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 47 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 36 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 56 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 32 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 27 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 33 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 46 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F59-maternal plasma

text: human

text: Family 59 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 31 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


text: human

text: Family 20 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 54 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


F39-maternal plasma

text: human

text: Family 39 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 1 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 6 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 25 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F32-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 40 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 41 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 45 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 12 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 3 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 53 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F25-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 55 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 10 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 30 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 11 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


text: human

text: Family 49 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 2 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


F43-maternal plasma

text: human

text: Family 43 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 9 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 6 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 16 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 57 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F07-maternal plasma

text: human

text: Family 7 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 21 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 46 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 45 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F41-maternal plasma

text: human

text: Family 41 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 19 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F19-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens


F46-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens


F58-maternal plasma

text: human

text: Family 58 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 28 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 29 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


text: human

text: Family 24 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 26 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


text: human

text: Family 51 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 59 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F03-maternal plasma

text: human

text: Family 3 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 39 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 48 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 57 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 52 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F36-maternal plasma

text: human

text: Family 36 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 23 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 42 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 13 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 27 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 22 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F44-maternal plasma

text: human

text: Family 44 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


text: human

text: Family 20 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F54-maternal plasma

text: human

text: Family 54 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


text: human

text: Family 34 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 38 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 31 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 56 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F13-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 10 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F53-maternal plasma

text: human

text: Family 53 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 17 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 25 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 4 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 11 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 14 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 15 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 58 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 12 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


F17-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 5 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F14-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


F18-maternal plasma

text: human

text: Family 18 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 48 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F42-maternal plasma

text: human

text: Family 42 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 1 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 35 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 23 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 30 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 37 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 36 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F08-maternal plasma

text: human

text: Family 8 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 26 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F56-maternal plasma

text: human

text: Family 56 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 33 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 7 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 31 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


text: human

text: Family 40 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


F34-maternal plasma

text: human

text: Family 34 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 11 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 19 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 21 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 49 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 15 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 54 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 45 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F38-maternal plasma

text: human

text: Family 38 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 39 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F33-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 55 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 14 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F31-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 36 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 52 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F40-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


F11-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens


F06-maternal plasma

text: human

text: Family 6 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F12-maternal plasma

text: human

text: Family 12 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


text: human

text: Family 4 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 59 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 27 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F02-maternal plasma

text: human

text: Family 2 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 22 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 47 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 10 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 1 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 54 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 46 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F24-maternal plasma

text: human

text: Family 24 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F37-maternal plasma

text: human

text: Family 37 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 13 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 3 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.


text: human

text: Family 28 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


F10-maternal plasma

text: human

text: Homo sapiens

text: Homo sapiens

text: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping


F09-maternal plasma

text: human

text: Family 9 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 43 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 42 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 34 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: human

text: Family 50 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.

text: Homo sapiens

text: Homo sapiens


text: Blood cell

characteristic: cell type

text: Shilong Zhong

characteristic: collected by

text: Human

characteristic: database id

text: PMID

characteristic: database name

text: The patient with coronary artery disease - This sample was derived from Guangdong Provincial People's Hospital

text: China

characteristic: geographic location (country and/or sea)

text: Gangzhou, Guangdong

characteristic: geographic location (region and locality)

text: Homo sapiens

text: Homo sapiens

text: Male

characteristic: sex

text: Cross-omics study in coronary artery disease

text: Cross-omics study and potential target function and intervention study of individual differences in drug response to coronary artery disease

Name: Department of Pharmacy, Guangdong Provincial Key Laboratory of Coronary Heart Disease Prevention,:Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences.

Address: 106 Zhongshan Road, Guangzhou 510080, P. R. China

Shilong Zhong

FirstName: Shilong

LastName: Zhong


text: Blood cell

text: Shilong Zhong

text: Human

text: PMID

text: The patient with coronary artery disease - This sample was derived from Xiangya Hospital, Central South University

text: China

text: Changsha, Hunan

text: Homo sapiens

text: Homo sapiens

text: Female


text: Blood cell

text: Shilong Zhong

text: Human

text: PMID

text: China

text: Gangzhou, Guangdong

text: Homo sapiens

text: Homo sapiens

text: Female


text: Blood cell

text: Shilong Zhong

text: Human

text: PMID

text: The patient with coronary artery disease - This sample was derived from the First Affiliated Hospital of Sun Yat-sen University

text: China

text: Gangzhou, Guangdong

text: Homo sapiens

text: Homo sapiens

text: Male


text: Blood cell

text: Shilong Zhong

text: Human

text: PMID

text: China

text: Changsha, Hunan

text: Homo sapiens

text: Homo sapiens

text: Male


text: Blood cell

text: Shilong Zhong

text: Human

text: PMID

text: China

text: Gangzhou, Guangdong

text: Homo sapiens

text: Homo sapiens

text: Unkown


text: Blood cell

text: Shilong Zhong

text: Human

text: PMID

text: China

text: Changsha, Hunan

text: Homo sapiens

text: Homo sapiens

text: Unkown