Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Jimmy F., James, Francis, Shukla, Anju, Girisha, Katta M., Paciorkowski, Alex R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
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
_version_ 1783246636131024896
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
work_keys_str_mv AT zhangjimmyf indiaallelefinderawebbasedannotationtoolforidentifyingcommonallelesinnextgenerationsequencingdataofindianorigin
AT jamesfrancis indiaallelefinderawebbasedannotationtoolforidentifyingcommonallelesinnextgenerationsequencingdataofindianorigin
AT shuklaanju indiaallelefinderawebbasedannotationtoolforidentifyingcommonallelesinnextgenerationsequencingdataofindianorigin
AT girishakattam indiaallelefinderawebbasedannotationtoolforidentifyingcommonallelesinnextgenerationsequencingdataofindianorigin
AT paciorkowskialexr indiaallelefinderawebbasedannotationtoolforidentifyingcommonallelesinnextgenerationsequencingdataofindianorigin