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

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

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Abstract 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 Va...

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Bibliographic Details
Main Authors: Jeffrey N. Dudley, Celine S. Hong, Marwan A. Hawari, Jasmine Shwetar, Julie C. Sapp, Justin Lack, Henoke Shiferaw, NISC Comparative Sequencing Program, Jennifer J. Johnston, Leslie G. Biesecker
Format: Article
Language:English
Published: BMC 2021-04-01
Series:BMC Bioinformatics
Subjects:
Mosaic variants
Prediction of mosaic variants
Somatic overgrowth disorder
Online Access:https://doi.org/10.1186/s12859-021-04090-y

Internet

https://doi.org/10.1186/s12859-021-04090-y

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