Kumar et al. Genome Medicine (2015) 7:35 DOI 10.1186/s13073-015-0160-4
RESEARCH
Open Access
Whole genome prediction for preimplantation genetic diagnosis Akash Kumar1†, Allison Ryan2†, Jacob O Kitzman1, Nina Wemmer2, Matthew W Snyder1, Styrmir Sigurjonsson2, Choli Lee1, Milena Banjevic2, Paul W Zarutskie3, Alexandra P Lewis1, Jay Shendure1* and Matthew Rabinowitz2*
Abstract 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 (
RESEARCH
Open Access
Whole genome prediction for preimplantation genetic diagnosis Akash Kumar1†, Allison Ryan2†, Jacob O Kitzman1, Nina Wemmer2, Matthew W Snyder1, Styrmir Sigurjonsson2, Choli Lee1, Milena Banjevic2, Paul W Zarutskie3, Alexandra P Lewis1, Jay Shendure1* and Matthew Rabinowitz2*
Abstract 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 (
