Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences

Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders. Long-read sequencing offers an exciting avenue over conventional technologies for detecting TR expansions. Here, we present Straglr, a robust software tool for both targeted genotyping and novel expansion detecti...

Descripción completa

Detalles Bibliográficos
Autores principales: Chiu, Readman, Rajan-Babu, Indhu-Shree, Friedman, Jan M., Birol, Inanc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8361843/
https://www.ncbi.nlm.nih.gov/pubmed/34389037
http://dx.doi.org/10.1186/s13059-021-02447-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8361843/
https://www.ncbi.nlm.nih.gov/pubmed/34389037
http://dx.doi.org/10.1186/s13059-021-02447-3

Ejemplares similares