Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

BACKGROUND: The widespread use of next-generation sequencing has identified an important role for somatic mosaicism in many diseases. However, detecting low-level mosaic variants from next-generation sequencing data remains challenging. RESULTS: Here, we present a method for Position-Based Variant I...

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Detalhes bibliográficos
Publicado no:BMC Bioinformatics
Main Authors: Dudley, Jeffrey N., Hong, Celine S., Hawari, Marwan A., Shwetar, Jasmine, Sapp, Julie C., Lack, Justin, Shiferaw, Henoke, Johnston, Jennifer J., Biesecker, Leslie G.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Methodology Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8028235/
https://ncbi.nlm.nih.gov/pubmed/33832433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-021-04090-y
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