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The clinical application of NGS-based SNP haplotyping for PGD of Hb H disease

24 Mar 2017

Abstract excerpt

This study investigated the usefulness of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) of hemoglobin H (Hb H) disease. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Gap-PCR and NGS-based SNP haplotyping was used to distinguish the two genotypes of...

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PMID: 28340305
DOI: 10.1080/19396368.2017.1296501

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