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