Structural Genomic Variation Analysis for the1000 Genome Project

Brigham And Women'S Hospital, Boston MA

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Abstract

DESCRIPTION: (provided by applicant): The 1000 Genomes Project is an initiative to sequence the complete genomes of over 1000 individuals and create a reference set of common and uncommon genetic variation among various ethnic populations. This project aims to more comprehensively identify all types of genetic variation, including Single nucleotide polymorphisms (SNPs) and Structural genome variants (SVs) which include regions that have been duplicated, deleted, inverted, or translocated through the course of human evolution. Some of these structural variants have been correlated with many different disease phenotypes and thus play a major role in human health. In the course of the pilot phase of this project, numerous diverse, yet complementary, analytical methods have been developed to detect these types of variation on multiple sequencing platforms. However, there remains a need to coalesce these approaches in an optimal fashion to apply to the large amounts of genomic sequence data that will be produced during the production phase. Our consortium include members of the structural genomic variation analysis group for the 1000 genome project and have been conducting analysis from the 1000 genome pilot project 2 over the past year. We will conduct a concerted effort to coordinate our resources to develop a unified process to analyze these data. We will research new ways of integrating and optimizing our existing methods of detection, and will cooperate with similar international and industrial efforts in order to provide a set of high quality structural variants to the biomedical research community. Specific Aim 1: Facilitate and coordinate computational analysis to provide structural variation data on data being generated by the 1000 genomes project. Specific Aim 2: Research and develop new methods for structural genomic variation data integration and processing.