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Reference-free SNP detection: dealing with the data deluge

Reference-free SNP detection, that is identifying SNPs between samples directly from comparison of primary sequencing data with other primary sequencing data and not to a pre-assembled reference genome is an emergent and potentially disruptive technology that is beginning to open up new vistas in va...

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Detalles Bibliográficos
Autores principales: Leggett, Richard M, MacLean, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083407/
https://www.ncbi.nlm.nih.gov/pubmed/25056481
http://dx.doi.org/10.1186/1471-2164-15-S4-S10
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author Leggett, Richard M
MacLean, Dan
author_facet Leggett, Richard M
MacLean, Dan
author_sort Leggett, Richard M
collection PubMed
description Reference-free SNP detection, that is identifying SNPs between samples directly from comparison of primary sequencing data with other primary sequencing data and not to a pre-assembled reference genome is an emergent and potentially disruptive technology that is beginning to open up new vistas in variant identification that reveals new applications in non-model organisms and metagenomics. The modern, effcient data structures these tools use enables researchers with a reference sequence to sample many more individuals with lower computing storage and processing overhead. In this article we will discuss the technologies and tools implementing reference-free SNP detection and the potential impact on studies of genetic variation in model and non-model organisms, metagenomics and personal genomics and medicine.
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spelling pubmed-40834072014-07-18 Reference-free SNP detection: dealing with the data deluge Leggett, Richard M MacLean, Dan BMC Genomics Review Reference-free SNP detection, that is identifying SNPs between samples directly from comparison of primary sequencing data with other primary sequencing data and not to a pre-assembled reference genome is an emergent and potentially disruptive technology that is beginning to open up new vistas in variant identification that reveals new applications in non-model organisms and metagenomics. The modern, effcient data structures these tools use enables researchers with a reference sequence to sample many more individuals with lower computing storage and processing overhead. In this article we will discuss the technologies and tools implementing reference-free SNP detection and the potential impact on studies of genetic variation in model and non-model organisms, metagenomics and personal genomics and medicine. BioMed Central 2014-05-20 /pmc/articles/PMC4083407/ /pubmed/25056481 http://dx.doi.org/10.1186/1471-2164-15-S4-S10 Text en Copyright © 2014 Leggett and MacLean; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
Leggett, Richard M
MacLean, Dan
Reference-free SNP detection: dealing with the data deluge
title Reference-free SNP detection: dealing with the data deluge
title_full Reference-free SNP detection: dealing with the data deluge
title_fullStr Reference-free SNP detection: dealing with the data deluge
title_full_unstemmed Reference-free SNP detection: dealing with the data deluge
title_short Reference-free SNP detection: dealing with the data deluge
title_sort reference-free snp detection: dealing with the data deluge
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083407/
https://www.ncbi.nlm.nih.gov/pubmed/25056481
http://dx.doi.org/10.1186/1471-2164-15-S4-S10
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