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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...

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Detalles Bibliográficos
Autores principales:	Edge, Peter, Bansal, Vikas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
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

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