Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.1K citations · Full text

Dna Sequencing, Sequencing, Medicine +14

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

Helga Thorvaldsdóttir, James Robinson, Jill P. Mesirov · Briefings in Bioinformatics · 2012 · 9.3K citations · Full text

An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.1K citations · Full text

Haplotype Determination, Human Variation, Integrated Map +9

A Human Protein Atlas for Normal and Cancer Tissues Based on Antibody Proteomics

Mathias Uhlén, Erik Björling, Charlotta Agaton et al. · Molecular & Cellular Proteomics · 2005 · 1.5K citations · Full text

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Wenqing Fu, Timothy D. O’Connor, Goo Jun et al. · Nature · 2012 · 1K citations · Full text