ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
Abstract Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be discovered. Existing methods for detecting repeat expansions in short-read sequencing data require predefined repeat catalogs. Recent discoveries emphasize the n...
Main Authors: | , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-04-01
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Series: | Genome Biology |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13059-020-02017-z |