ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
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ABSTRACT:
SUBMITTER: Dolzhenko E
PROVIDER: S-EPMC7187524 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Publications
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
Dolzhenko Egor E Bennett Mark F MF Richmond Phillip A PA Trost Brett B Chen Sai S van Vugt Joke J F A JJFA Nguyen Charlotte C Narzisi Giuseppe G Gainullin Vladimir G VG Gross Andrew M AM Lajoie Bryan R BR Taft Ryan J RJ Wasserman Wyeth W WW Scherer Stephen W SW Veldink Jan H JH Bentley David R DR Yuen Ryan K C RKC Bahlo Melanie M Eberle Michael A MA
Genome biology 20200428 1
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 need for methods that do not require pre-specified candidate repeats. To address this need, we introduce ExpansionHunter Denovo, an efficient catalog-free method for genome-wide repeat expansion detection. Anal ...[more]
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