LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

Abstract Background Short tandem repeats (STRs) are widely distributed across the human genome and are associated with numerous neurological disorders. However, the extent that STRs contribute to disease is likely under-estimated because of the challenges calling these variants in short read next ge...

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Bibliographic Details
Main Authors: Jinfeng Lu, Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Cristiane Araujo Martins Moreno, Wan-Ping Lee, Yuk Yee Leung, Mathew B. Harms, Badri Vardarajan, Erin L. Heinzen
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Genomics
Subjects:
Short tandem repeats
Bioinformatics
Variant calling tool kit
Somatic
LUSTR
Online Access:https://doi.org/10.1186/s12864-023-09935-9

Internet

https://doi.org/10.1186/s12864-023-09935-9

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