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

Motivation: 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 unl...

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Bibliographic Details
Main Authors: Lion, T. (Author), Popitsch, N. (Author), Preuner, S. (Author)
Format: Article
Language:English
Published: Oxford University Press 2021
Online Access:View Fulltext in Publisher