Method
Identification of pathogenic variant enriched regions across genes and gene families
- First Published December 23, 2019
Resource
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
- First Published April 10, 2017
Method
Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes
- First Published December 16, 2016
Resource
Assemblathon 1: A competitive assessment of de novo short read assembly methods
- First Published September 16, 2011
Method
Revealing the genetic structure of a trait by sequencing a population under selection
- First Published March 21, 2011
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
RESOURCE
A molecular-properties-based approach to understanding PDZ domain proteins and PDZ ligands
- First Published July 6, 2006