ERS5738112
SRA accession
human
http://purl.obolibrary.org/obo/NCBITaxon_9606
common name
Family 56 - The merged vcf file includes 59 families and each family includes mat, pat, maternal plasma and fetus.
description
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
scientific name
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.
submission description
Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping
submission title