Article
Accurate and scalable variant calling from single cell DNA sequencing data with ProSolo.
Nature communications - 18 Nov 2021
Lähnemann David, Köster Johannes, Fischer Ute, Borkhardt Arndt, McHardy Alice C, Schönhuth Alexander
Abstract excerpt
Accurate single cell mutational profiles can reveal genomic cell-to-cell heterogeneity. However, sequencing libraries suitable for genotyping require whole genome amplification, which introduces allelic bias and copy errors. The resulting data violates assumptions of variant callers developed for bulk sequencing. Thus, only dedicated models accounting for amplification bias and errors can provide accurate calls....
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