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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...
Autores principales: | Wilton, Richard, Szalay, Alexander S |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
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 |
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