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India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin
OBJECTIVE: We built India Allele Finder, an online searchable database and command line tool, that gives researchers access to variant frequencies of Indian Telugu individuals, using publicly available fastq data from the 1000 Genomes Project. Access to appropriate population-based genomic variant a...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488357/ https://www.ncbi.nlm.nih.gov/pubmed/28655339 http://dx.doi.org/10.1186/s13104-017-2556-2 |
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author | Zhang, Jimmy F. James, Francis Shukla, Anju Girisha, Katta M. Paciorkowski, Alex R. |
author_facet | Zhang, Jimmy F. James, Francis Shukla, Anju Girisha, Katta M. Paciorkowski, Alex R. |
author_sort | Zhang, Jimmy F. |
collection | PubMed |
description | OBJECTIVE: We built India Allele Finder, an online searchable database and command line tool, that gives researchers access to variant frequencies of Indian Telugu individuals, using publicly available fastq data from the 1000 Genomes Project. Access to appropriate population-based genomic variant annotation can accelerate the interpretation of genomic sequencing data. In particular, exome analysis of individuals of Indian descent will identify population variants not reflected in European exomes, complicating genomic analysis for such individuals. RESULTS: India Allele Finder offers improved ease-of-use to investigators seeking to identify and annotate sequencing data from Indian populations. We describe the use of India Allele Finder to identify common population variants in a disease quartet whole exome dataset, reducing the number of candidate single nucleotide variants from 84 to 7. India Allele Finder is freely available to investigators to annotate genomic sequencing data from Indian populations. Use of India Allele Finder allows efficient identification of population variants in genomic sequencing data, and is an example of a population-specific annotation tool that simplifies analysis and encourages international collaboration in genomics research. |
format | Online Article Text |
id | pubmed-5488357 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-54883572017-07-03 India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin Zhang, Jimmy F. James, Francis Shukla, Anju Girisha, Katta M. Paciorkowski, Alex R. BMC Res Notes Research Note OBJECTIVE: We built India Allele Finder, an online searchable database and command line tool, that gives researchers access to variant frequencies of Indian Telugu individuals, using publicly available fastq data from the 1000 Genomes Project. Access to appropriate population-based genomic variant annotation can accelerate the interpretation of genomic sequencing data. In particular, exome analysis of individuals of Indian descent will identify population variants not reflected in European exomes, complicating genomic analysis for such individuals. RESULTS: India Allele Finder offers improved ease-of-use to investigators seeking to identify and annotate sequencing data from Indian populations. We describe the use of India Allele Finder to identify common population variants in a disease quartet whole exome dataset, reducing the number of candidate single nucleotide variants from 84 to 7. India Allele Finder is freely available to investigators to annotate genomic sequencing data from Indian populations. Use of India Allele Finder allows efficient identification of population variants in genomic sequencing data, and is an example of a population-specific annotation tool that simplifies analysis and encourages international collaboration in genomics research. BioMed Central 2017-06-27 /pmc/articles/PMC5488357/ /pubmed/28655339 http://dx.doi.org/10.1186/s13104-017-2556-2 Text en © The Author(s) 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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 | Research Note Zhang, Jimmy F. James, Francis Shukla, Anju Girisha, Katta M. Paciorkowski, Alex R. India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin |
title | India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin |
title_full | India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin |
title_fullStr | India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin |
title_full_unstemmed | India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin |
title_short | India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin |
title_sort | india allele finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of indian origin |
topic | Research Note |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488357/ https://www.ncbi.nlm.nih.gov/pubmed/28655339 http://dx.doi.org/10.1186/s13104-017-2556-2 |
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