Article
Accurate genotyping across variant classes and lengths using variant graphs.
Nature genetics - 1 Jul 2018
Sibbesen Jonas Andreas, Maretty Lasse, Krogh Anders
Abstract excerpt
Genotype estimates from short-read sequencing data are typically based on the alignment of reads to a linear reference, but reads originating from more complex variants (for example, structural variants) often align poorly, resulting in biased genotype estimates. This bias can be mitigated by first collecting a set of candidate variants across discovery methods, individuals and databases, and then realigning the...
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