BEDTools: a flexible suite of utilities for comparing genomic features

Aaron R. Quinlan, Ira M. Hall

Bioinformatics

A global reference for human genetic variation

Nature

Human VariationNatural SciencesGeneticsEvolutionary BiologyGlobal Reference +4

pROC: an open-source package for R and S+ to analyze and compare ROC curves

Xavier Robin, Natacha Turck, Alexandre Hainard, +4

BMC Bioinformatics

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, +76

Nature

Phenotypic VariationProtein-coding Genetic VariationGeneticsHuman PolymorphismGenomics +3

The Genotype-Tissue Expression (GTEx) project.

PubMed

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, +172

Nature

Integrative analysis of 111 reference human epigenomes

Anshul Kundaje, Wouter Meuleman, Jason Ernst, +91

Nature

BioinformaticsChromatinGenome-wide Association StudyMedicineGenetics +12

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain, +3

Nature Genetics

Relative PathogenicityGeneticsGenetic EpidemiologyGenomicsGenome-wide Association Study +14

GENCODE: The reference human genome annotation for The ENCODE Project

Jennifer Harrow, Adam Frankish, José M. González, +38

Genome Research

GeneticsGencode ConsortiumMolecular BiologyTranscriptomics TechnologyGenomics +19

ClinVar: improving access to variant interpretations and supporting evidence

Melissa Landrum, Jennifer M. Lee, Mark J. Benson, +19

Nucleic Acids Research

Genetic TestingGeneticsGenetic EpidemiologyPathologySemantics +19