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Article

Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing.

Genome research - 1 Mar 2015

Peters Brock A, Kermani Bahram G, Alferov Oleg, Agarwal Misha R, McElwain Mark A, Gulbahce Natali, Hayden Daniel M, Tang Y Tom, Zhang Rebecca Yu, Tearle Rick, Crain Birgit, Prates Renata, Berkeley Alan, Munné Santiago, Drmanac Radoje

Abstract excerpt

Currently, the methods available for preimplantation genetic diagnosis (PGD) of in vitro fertilized (IVF) embryos do not detect de novo single-nucleotide and short indel mutations, which have been shown to cause a large fraction of genetic diseases. Detection of all these types of mutations requires whole-genome sequencing (WGS). In this study, advanced massively parallel WGS was performed on three 5- to 10-cell...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25672852
DOI: 10.1101/gr.181255.114
PMCID: PMC4352880

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PGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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