Haplotype phasing in single-cell DNA-sequencing data.

ABSTRACT:

Motivation

Current technologies for single-cell DNA sequencing require whole-genome amplification (WGA), as a single cell contains too little DNA for direct sequencing. Unfortunately, WGA introduces biases in the resulting sequencing data, including non-uniformity in genome coverage and high rates of allele dropout. These biases complicate many downstream analyses, including the detection of genomic variants.

Results

We show that amplification biases have a potential upside: long-range correlations in rates of allele dropout provide a signal for phasing haplotypes at the lengths of amplicons from WGA, lengths which are generally longer than than individual sequence reads. We describe a statistical test to measure concurrent allele dropout between single-nucleotide polymorphi

SUBMITTER: Satas G 

PROVIDER: S-EPMC6022575 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature