New York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2

$248,087UM1FY2018HGNIH

New York Genome Center, New York NY

Investigators

Linked publications, trials & patents

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Abstract

Project Abstract The primary goal of this supplement request is to create a comprehensive, high quality map of genome variation from the complete set of whole genome sequencing (WGS) data produced by the CCDG program to date. The genome variation map will encompass small variants (SNVs and indels < 50 bp) as well as larger structural variants (SVs) including deletions, duplications, inversions, mobile element insertions, complex SVs and multi- allelic copy number variants (CNVs). A secondary goal is to initiate work towards the creation of Community Resources derived from the Freeze2 genome variation map, including publicly available site-frequency catalogs, imputation reference panels and functional constraint annotations. The overall strategy will mirror our successful Freeze1 pilot effort from last year, with modifications to improve comprehensiveness and efficiency.

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