eWGA-Seq for single cell whole genome sequencing. Homo sapiens

Various whole genome amplification (WGA) and sequencing methods have been developed to characterize genetic variations at the single-cell level. However, the resolution and accuracy of copy number variation (CNV) and single nucleotide variation (SNV) detection are limited due to the amplification bias and error. Here we report emulsion WGA sequencing (eWGA-Seq) that enables simultaneous detection of CNV and SNV in an individual human cell, showing significantly improved amplification evenness and accuracy compared with the prevailing methods.