Detection of long repeat expansions from PCR-free whole-genome sequence data
Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-genome sequencing (WGS) data. A solution to this problem is an important step toward integrating WGS into precision me...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Cold Spring Harbor Laboratory,
2018-06-22T15:34:53Z.
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Subjects: | |
Online Access: | Get fulltext |