Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing

Single-molecule sequencing (SMS) such as Pacific Biosciences and Oxford Nanopore generate long reads with high error rate. Here, the authors develop Longshot, a computational method that detects and phases single nucleotide variants (SNV) in diploid genomes using SMS data.

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Autores principales: Peter Edge, Vikas Bansal
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Acceso en línea:https://doaj.org/article/a914015fa7154b73858b882af20bfb66
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spelling oai:doaj.org-article:a914015fa7154b73858b882af20bfb662021-12-02T14:40:19ZLongshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing10.1038/s41467-019-12493-y2041-1723https://doaj.org/article/a914015fa7154b73858b882af20bfb662019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12493-yhttps://doaj.org/toc/2041-1723Single-molecule sequencing (SMS) such as Pacific Biosciences and Oxford Nanopore generate long reads with high error rate. Here, the authors develop Longshot, a computational method that detects and phases single nucleotide variants (SNV) in diploid genomes using SMS data.Peter EdgeVikas BansalNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Peter Edge
Vikas Bansal
Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing
description Single-molecule sequencing (SMS) such as Pacific Biosciences and Oxford Nanopore generate long reads with high error rate. Here, the authors develop Longshot, a computational method that detects and phases single nucleotide variants (SNV) in diploid genomes using SMS data.
format article
author Peter Edge
Vikas Bansal
author_facet Peter Edge
Vikas Bansal
author_sort Peter Edge
title Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing
title_short Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing
title_full Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing
title_fullStr Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing
title_full_unstemmed Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing
title_sort longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing
publisher Nature Portfolio
publishDate 2019
url https://doaj.org/article/a914015fa7154b73858b882af20bfb66
work_keys_str_mv AT peteredge longshotenablesaccuratevariantcallingindiploidgenomesfromsinglemoleculelongreadsequencing
AT vikasbansal longshotenablesaccuratevariantcallingindiploidgenomesfromsinglemoleculelongreadsequencing
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