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Article

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.

Genome medicine - 9 Aug 2021

Rajan-Babu Indhu-Shree, Peng Junran J, Chiu Readman, Li Chenkai, Mohajeri Arezoo, Dolzhenko Egor, Eberle Michael A, Birol Inanc, Friedman Jan M

Abstract excerpt

BACKGROUND: Screening for short tandem repeat (STR) expansions in next-generation sequencing data can enable diagnosis, optimal clinical management/treatment, and accurate genetic counseling of patients with repeat expansion disorders. We aimed to develop an efficient computational workflow for reliable detection of STR expansions in next-generation sequencing data and demonstrate its clinical utility. METHODS:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34372915
DOI: 10.1186/s13073-021-00932-9
PMCID: PMC8351082

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