CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications

CoverageMaster (CoM) is a copy number variation (CNV) calling algorithm based on depth-of-coverage maps designed to detect CNVs of any size in exome [whole exome sequencing (WES)] and genome [whole genome sequencing (WGS)] data. The core of the algorithm is the compression of sequencing coverage dat...

Descripción completa

Detalles Bibliográficos
Autores principales: Rapti, Melivoia, Zouaghi, Yassine, Meylan, Jenny, Ranza, Emmanuelle, Antonarakis, Stylianos E, Santoni, Federico A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Problem Solving Protocol
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8921749/
https://www.ncbi.nlm.nih.gov/pubmed/35224620
http://dx.doi.org/10.1093/bib/bbac049

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8921749/
https://www.ncbi.nlm.nih.gov/pubmed/35224620
http://dx.doi.org/10.1093/bib/bbac049

Ejemplares similares