Systematic Analysis and Functional Annotation of Variations in the Genome of an Indian Individual
IR@IGIB: CSIR-Institute of Genomics & Integrative Biology, New Delhi
View Archive Info| Field | Value | |
| Title |
Systematic Analysis and Functional Annotation of
Variations in the Genome of an Indian Individual
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| Creator |
Patowary , Ashok
Purkanti, Ramya Singh, Meghna Chauhan, Rajendra Kumar Bhartiya, Deeksha Dwivedi, Om Prakash Chauhan, Ganesh Bharadwaj, Dwaipayan Sivasubbu, Sridhar Scaria, Vinod |
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| Subject |
CH1 Chemical Biology
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| Description |
ABSTRACT: Whole genome sequencing of personal
genomes has revealed a large repertoire of genomic variations
and has provided a rich template for identifica-
tion of common and rare variants in genomes in addi-
tion 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.
Hum Mutat 33:1133–1140, 2012.
C�
2012 Wiley Periodicals, Inc.
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| Date |
2012
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| Type |
Article
PeerReviewed |
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| Format |
application/pdf
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| Identifier |
http://openaccess.igib.res.in/161/1/Patowary%20etal%202012_Human%20genome.pdf
Patowary , Ashok and Purkanti, Ramya and Singh, Meghna and Chauhan, Rajendra Kumar and Bhartiya, Deeksha and Dwivedi, Om Prakash and Chauhan, Ganesh and Bharadwaj, Dwaipayan and Sivasubbu, Sridhar and Scaria, Vinod (2012) Systematic Analysis and Functional Annotation of Variations in the Genome of an Indian Individual. Systematic Analysis and Functional Annotation of Variations in the Genome of an Indian Individual, 33 (7). pp. 1133-1140. |
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| Relation |
http://openaccess.igib.res.in/161/
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