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