Calling Somatic SNVs and Indels with Mutect2
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Abstract
Abstract Mutect2 is a somatic variant caller that uses local assembly and realignment to detect SNVs and indels. Assembly implies whole haplotypes and read pairs, rather than single bases, as the atomic units of biological variation and sequencing evidence, improving variant calling. Beyond local assembly and alignment, Mutect2 is based on several probabilistic models for genotyping and filtering that work well with and without a matched normal sample and for all sequencing depths.
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6Topics & keywords
Topics
Keywords
- Indel
- Genotyping
- Haplotype
- Probabilistic logic
- Computational biology
- Computer science
- Somatic cell
- Genetics
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