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STRAS:a snakemake pipeline for genome wild Short Tandem Repeats Annotation and Score

2023-02-20

Abstract excerpt

<title>Abstract</title> <p>High-throughput whole genome sequencing (WGS) is clinically used in finding single nucleotide variants and small indels. Several bioinformatics tools are developed to call short tandem repeats (STRs) copy numbers from WGS data, such as ExpansionHunter denovo, GangSTR and HipSTR. However, expansion disorders are rare and it is hard to find candidate expansions in single patient sequencin...

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Literature Corpus work: a75b42e1-7b08-5f83-8301-331748ac456c
DOI: 10.21203/rs.3.rs-2263265/v1

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