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Reference-based variant detection with varseek

2025-09-05

Abstract excerpt

Variant detection from sequencing data is fundamental for genomics and is the first step in a wide range of applications, ranging from genome-wide association studies to disease diagnosis. Widely used tools for variant detection utilize a de novo approach that is based on a combination of read mapping algorithms and statistical methods for identifying genetic variation from error-prone sequencing data. This appro...

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Identifiers and source

Literature Corpus work
0f0656fc-553b-5720-a305-6497dec6a233
DOI
10.1101/2025.09.03.674039
Open publication

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Reference-based variant detection with varseekDOI 10.1101/2025.09.03.674039
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