Article

Nanopanel2 calls phased low-frequency variants in Nanopore panel sequencing data

2020-11-08

Abstract excerpt

Clinical decision making is increasingly guided by accurate and recurrent determination of presence and frequency of (somatic) variants and their haplotype through panel sequencing of disease-relevant genomic regions. Haplotype calling (phasing), however, is difficult and error prone unless variants are located on the same read which limits the ability of short-read sequencing to detect, e.g., co-occurrence of dru...

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Literature Corpus work: 3b6349dc-f03a-5b11-9b09-1f52eb22fde1
DOI: 10.1101/2020.11.06.370858

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