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Genome Medicine

, 7:35

First Online: 08 April 2015Received: 21 January 2015Accepted: 24 March 2015

Abstract

BackgroundPreimplantation 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 fresh embryo transfer. Here, we describe and validate a method for inferring the inherited whole genome sequence of an embryo for preimplantation genetic diagnosis PGD.

MethodsWe combine haplotype-resolved, parental genome sequencing with rapid embryo genotyping to predict the whole genome sequence of a day-5 human embryo in a couple at risk of transmitting alpha-thalassemia.

ResultsInheritance was predicted at approximately 3 million paternally and-or maternally heterozygous sites with greater than 99% accuracy. Furthermore, we successfully phase and predict the transmission of an HBA1-HBA2 deletion from each parent.

ConclusionsOur results suggest that preimplantation whole genome prediction may facilitate the comprehensive diagnosis of diseases with a known genetic basis in embryos.

Akash Kumar and Allison Ryan contributed equally to this work.

Electronic supplementary materialThe online version of this article doi:10.1186-s13073-015-0160-4 contains supplementary material, which is available to authorized users.

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Author: Akash Kumar - Allison Ryan - Jacob O Kitzman - Nina Wemmer - Matthew W Snyder - Styrmir Sigurjonsson - Choli Lee - Milena

Source: https://link.springer.com/



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