SAMN02356504
External Id
CSIR-Institute of Genomics and Integrative Biology
INSDC center name
2013-09-16T00:00:00Z
INSDC first public
2019-06-20T16:38:24.210Z
INSDC last update
live
INSDC status
Generic
NCBI submission model
Generic.1.0
NCBI submission package
2008
collection date
Whole genome sequencing of personal genomes has revealed a large repertoire of genomic variations and has provided a rich template for identification of common and rare variants in genomes in addition to understanding the genetic basis of diseases. The widespread application of personal genome sequencing in clinical settings for predictive and preventive medicine has been limited due to the lack of comprehensive computational analysis pipelines. We have used next-generation sequencing technology to sequence the whole genome of a self-declared healthy male of Indian origin. We have generated around 28X of the reference human genome with over 99% coverage. Analysis revealed over 3 million single nucleotide variations and about 490,000 small insertion-deletion events including several novel variants. Using this dataset as a template, we designed a comprehensive computational analysis pipeline for the systematic analysis and annotation of functionally relevant variants in the genome. This study follows a systematic and intuitive data analysis workflow to annotate genome variations and its potential functional effects. Moreover, we integrate predictive analysis of pharmacogenomic traits with emphasis on drugs for which pharmacogenomic testing has been recommended. This study thus provides the template for genome-scale analysis of personal genomes for personalized medicine
description
India
geo loc name
blood
http://purl.obolibrary.org/obo/UBERON_0000178
isolation source
Anonymous Indian individual
label
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Systematic analysis and functional annotation of variations in the genome of an Indian individual
title