Short-read aligner performance in germline variant identification

MOTIVATION: Read alignment is an essential first step in the characterization of DNA sequence variation. The accuracy of variant-calling results depends not only on the quality of read alignment and variant-calling software but also on the interaction between these complex software tools. RESULTS: I...

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Detalles Bibliográficos
Autores principales: Wilton, Richard, Szalay, Alexander S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421969/
https://www.ncbi.nlm.nih.gov/pubmed/37527006
http://dx.doi.org/10.1093/bioinformatics/btad480

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421969/
https://www.ncbi.nlm.nih.gov/pubmed/37527006
http://dx.doi.org/10.1093/bioinformatics/btad480

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