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Method

Identification of pathogenic variant enriched regions across genes and gene families

  • First Published December 23, 2019
Method

Read clouds uncover variation in complex regions of the human genome

  • First Published August 18, 2015
Method

Parente2: a fast and accurate method for detecting identity by descent

  • First Published October 1, 2014
Research

Genome evolution during progression to breast cancer

  • First Published April 8, 2013
Method

Ubiquitous heterogeneity and asymmetry of the chromatin environment at regulatory elements

  • First Published September 5, 2012
Resource

ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia

  • First Published September 5, 2012
Method

Linking disease associations with regulatory information in the human genome

  • First Published September 5, 2012
Research

Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging

  • First Published September 1, 2010
Resource

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

  • First Published July 19, 2010
Letter

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

  • First Published January 12, 2010
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