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Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing
Whole-genome sequencing using sequencing technologies such as Illumina enables the accurate detection of small-scale variants but provides limited information about haplotypes and variants in repetitive regions of the human genome. Single-molecule sequencing (SMS) technologies such as Pacific Biosci...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6788989/ https://www.ncbi.nlm.nih.gov/pubmed/31604920 http://dx.doi.org/10.1038/s41467-019-12493-y |