2017
DOI: 10.1186/s13104-017-2556-2
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India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin

Abstract: ObjectiveWe 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 g… Show more

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Cited by 3 publications
(2 citation statements)
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References 8 publications
(7 reference statements)
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“…Among the initial studies, Indian Genomic Variation Consortium, reported the SNPs associated with CYP1B1 gene, important in glaucoma, and showed its association with ethnic diversity distribution in the country (Indian Genome Variation Consortium, 2008). India Allele Finder, curated and presented data from the 1,000 genome browser (Zhang, James, Shukla, Girisha, & Paciorkowski, 2017). Among the multiple forums for rare diseases in India, organizations such as the Organization for Rare Diseases in India, ORDI, have developed a platform for all information regarding rare diseases in India, catering to the patients.…”
Section: Databases and Consortiamentioning
confidence: 99%
See 1 more Smart Citation
“…Among the initial studies, Indian Genomic Variation Consortium, reported the SNPs associated with CYP1B1 gene, important in glaucoma, and showed its association with ethnic diversity distribution in the country (Indian Genome Variation Consortium, 2008). India Allele Finder, curated and presented data from the 1,000 genome browser (Zhang, James, Shukla, Girisha, & Paciorkowski, 2017). Among the multiple forums for rare diseases in India, organizations such as the Organization for Rare Diseases in India, ORDI, have developed a platform for all information regarding rare diseases in India, catering to the patients.…”
Section: Databases and Consortiamentioning
confidence: 99%
“…Consortium, 2008). India Allele Finder, curated and presented data from the 1,000 genome browser (Zhang, James, Shukla, Girisha, & Paciorkowski, 2017). Among the multiple forums for rare diseases in India, organizations such as the Organization for Rare Diseases in India, ORDI, have developed a platform for all information regarding rare diseases in India, catering to the patients.…”
Section: Systemic Disorders Showing Nystagmusmentioning
confidence: 99%