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A multilocus approach for accurate variant calling in low-copy repeats using whole-genome sequencing
MOTIVATION: Low-copy repeats (LCRs) or segmental duplications are long segments of duplicated DNA that cover [Formula: see text] 5% of the human genome. Existing tools for variant calling using short reads exhibit low accuracy in LCRs due to ambiguity in read mapping and extensive copy number variat...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10311303/ https://www.ncbi.nlm.nih.gov/pubmed/37387146 http://dx.doi.org/10.1093/bioinformatics/btad268 |