TY - JOUR
T1 - India Allele Finder
T2 - A web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin
AU - Zhang, Jimmy F.
AU - James, Francis
AU - Shukla, Anju
AU - Girisha, Katta M.
AU - Paciorkowski, Alex R.
N1 - Funding Information:
Research reported in this work was supported by the National Institutes of Health, National Institute of Neurologic Disorders and Stroke under Award Number K08NS078054 (to A.R.P.).
Publisher Copyright:
© 2017 The Author(s).
PY - 2017/6/27
Y1 - 2017/6/27
N2 - 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.
AB - 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.
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U2 - 10.1186/s13104-017-2556-2
DO - 10.1186/s13104-017-2556-2
M3 - Article
AN - SCOPUS:85021296255
SN - 1756-0500
VL - 10
JO - BMC Research Notes
JF - BMC Research Notes
IS - 1
M1 - 233
ER -