A New Workflow for Whole‐Genome Sequencing of Single Human Cells. Issue 10 (18th August 2014)

• Record Type: Journal Article
• Authors: Binder, Vera; Bartenhagen, Christoph; Okpanyi, Vera; Gombert, Michael; Moehlendick, Birte; Behrens, Bianca; Klein, Hans‐Ulrich; Rieder, Harald; Ida Krell, Pina Fanny; Dugas, Martin; Stoecklein, Nikolas Hendrik; Borkhardt, Arndt
• Is Part Of: Human mutation. Volume 35:Issue 10(2014:Oct.)
• Page Start: 1260
• Page End: 1270
• Publication Date: 2014-08-18
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22625
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22625-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Here, we present a new workflow combining an efficient adapter‐linker PCR‐based WGA method with 2nd generation sequencing. Amplification recovered up to 74% of the human genome. Copy number variants (CNVs) and loss of heterozygosity (LOH) detected in single cell genomes showed concordance of up to 99% to pooled gDNA. Allele frequencies of mutations could be determined accurately due to an allele dropout rate of only 2%. Sequencing with paired end reads allowed genome‐wide analysis of structural variants (SVs). <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh1f9dc0bh" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>