Article

Accurate calling of low-frequency somatic mutations by sample-specific modeling of error rates

2024-12-20

Abstract excerpt

Calling rare somatic variants from NGS data is more challenging than calling inherited variants, especially if the somatic variant is only present in a small fraction of the cells in the sequenced biopsy. In this case, having a good estimate of the error rate of a specific base in a particular read becomes essential. In paired-end sequencing, where some DNA fragments are shorter than twice the read length, the ove...

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Literature Corpus work: 146d945b-fd7f-510c-b1ee-2a37c63c0344
DOI: 10.1101/2024.12.17.629019

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