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

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 STRs absent...

Descripción completa

Detalles Bibliográficos
Autores principales: Dashnow, Harriet, Pedersen, Brent S., Hiatt, Laurel, Brown, Joe, Beecroft, Sarah J., Ravenscroft, Gianina, LaCroix, Amy J., Lamont, Phillipa, Roxburgh, Richard H., Rodrigues, Miriam J., Davis, Mark, Mefford, Heather C., Laing, Nigel G., Quinlan, Aaron R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9753380/
https://www.ncbi.nlm.nih.gov/pubmed/36517892
http://dx.doi.org/10.1186/s13059-022-02826-4

Ejemplares similares

Ejemplares similares