Noninvasive prenatal testing of alpha-thalassemia and beta-thalassemia through population-based parental haplotyping

ABSTRACT: 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.

INSTRUMENT(S): BGISEQ-500

ORGANISM(S): Homo Sapiens

SUBMITTER: Tianjin Medical Laboratory, BGI-Tianjin 

PROVIDER: PRJEB42529 | EVA | 2021-01-18

REPOSITORIES: EVA