Genomics

Dataset Information

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Homo sapiens strain:Indian Individual


ABSTRACT: Systematic analysis and functional annotation of variations in the genome of an Indian individual

ORGANISM(S): Homo sapiens  

PROVIDER: PRJNA219217 | ENA |

REPOSITORIES: ENA

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Publications

Systematic analysis and functional annotation of variations in the genome of an Indian individual.

Patowary Ashok A   Purkanti Ramya R   Singh Meghna M   Chauhan Rajendra Kumar RK   Bhartiya Deeksha D   Dwivedi Om Prakash OP   Chauhan Ganesh G   Bharadwaj Dwaipayan D   Sivasubbu Sridhar S   Scaria Vinod V  

Human mutation 20120416 7


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  ...[more]

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