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

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

Abstract 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...

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Bibliographic Details
Main Authors: Indhu-Shree Rajan-Babu, Junran J. Peng, Readman Chiu, IMAGINE Study, CAUSES Study, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, Inanc Birol, Jan M. Friedman
Format: Article
Language:English
Published: BMC 2021-08-01
Series:Genome Medicine
Subjects:
Clinical bioinformatics
Repeat expansion
Next-generation sequencing
Short tandem repeats
Machine learning
Online Access:https://doi.org/10.1186/s13073-021-00932-9

Internet

https://doi.org/10.1186/s13073-021-00932-9

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