STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Abstract Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection is challenging with short-read DNA sequencing data since supporting reads are often mapped incorrectly. Detection is particularly difficult for “novel” STRs, which include new motifs at known loci or STR...

Full description

Bibliographic Details
Main Authors: Harriet Dashnow, Brent S. Pedersen, Laurel Hiatt, Joe Brown, Sarah J. Beecroft, Gianina Ravenscroft, Amy J. LaCroix, Phillipa Lamont, Richard H. Roxburgh, Miriam J. Rodrigues, Mark Davis, Heather C. Mefford, Nigel G. Laing, Aaron R. Quinlan
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Genome Biology
Online Access:https://doi.org/10.1186/s13059-022-02826-4

Internet

https://doi.org/10.1186/s13059-022-02826-4

Similar Items