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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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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. |
format | Online Article Text |
id | pubmed-4083407 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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