organism: Homo sapiens
description: Family 41 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.
attributes.tag: SRA accession
attributes.value: ERS5737996
attributes.tag: Sample Name
attributes.value: F41-pat
attributes.tag: common name
attributes.value: human
attributes.tag: scientific name
attributes.value: Homo sapiens
attributes.tag: submission description
attributes.value: 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.
attributes.tag: submission title
attributes.value: Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping