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Whole genome prediction for preimplantation genetic diagnosis

7 Apr 2015

Abstract excerpt

BACKGROUND: Preimplantation genetic diagnosis (PGD) enables profiling of embryos for genetic disorders prior to implantation. The majority of PGD testing is restricted in the scope of variants assayed or by the availability of extended family members. While recent advances in single cell sequencing show promise, they remain limited by bias in DNA amplification and the rapid turnaround time (<36 h) required for...

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PMID: 26019723
DOI: 10.1186/s13073-015-0160-4

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