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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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Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: Edge, Peter, Bansal, Vikas
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6788989/
https://ncbi.nlm.nih.gov/pubmed/31604920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-12493-y
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