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...
Main Authors: | , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-08-01
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Series: | Genome Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13073-021-00932-9 |