nPoRe: n-polymer realigner for improved pileup-based variant calling

Despite recent improvements in nanopore basecalling accuracy, germline variant calling of small insertions and deletions (INDELs) remains poor. Although precision and recall for single nucleotide polymorphisms (SNPs) now exceeds 99.5%, INDEL recall remains below 80% for standard R9.4.1 flow cells. W...

Descripción completa

Detalles Bibliográficos
Autores principales: Dunn, Tim, Blaauw, David, Das, Reetuparna, Narayanasamy, Satish
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022090/
https://www.ncbi.nlm.nih.gov/pubmed/36927439
http://dx.doi.org/10.1186/s12859-023-05193-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022090/
https://www.ncbi.nlm.nih.gov/pubmed/36927439
http://dx.doi.org/10.1186/s12859-023-05193-4

Ejemplares similares