Gene Ontology: tool for the unification of biology

Michael Ashburner, Catherine A. Ball, Judith A. Blake, +17

Nature Genetics

Functional GenomicsEngineeringBioinformatics DatabaseBiological DatabaseMedicine +9

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

Mark A. DePristo, Eric Banks, Ryan Poplin, +15

Nature Genetics

Dna SequencingSequencingMedicineGeneticsComputational Genomics +12

Principal components analysis corrects for stratification in genome-wide association studies

Alkes L. Price, Nick J. Patterson, Robert M. Plenge, +3

Nature Genetics

Genome-wide Association StudyHaplotype DeterminationGenotype-phenotype AssociationGeneticsLinkage Analysis +6

PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

Vamsi K. Mootha, Cecilia M. Lindgren, Karl‐Fredrik Eriksson, +18

Nature Genetics

Metabolic SyndromeHuman DiabetesBiochemistryDiabetesPgc-1α-responsive Genes +8

The Cancer Genome Atlas Pan-Cancer analysis project

John N. Weinstein, Gordon B. Mills, Kenna Shaw, +5

Nature Genetics

Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases

Marie Verbanck, Chia‐Yen Chen, Benjamin M. Neale, +1

Nature Genetics

Linkage DisequilibriumEpidemiologyGenotype-phenotype AssociationGenetic EpidemiologyMendelian Randomization +11

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

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

Brendan Bulik‐Sullivan, Po‐Ru Loh, Hilary K. Finucane, +5

Nature Genetics

Genome-wide Association StudyGenetic DeterminantGenotype-phenotype AssociationGeneticsPolygenic Risk +7

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

Eric S. Lander, Leonid Kruglyak

Nature Genetics

Genetic AnalysisLinkage DisequilibriumComplex Trait GeneticsGenotype-phenotype AssociationGenetics +9

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan, +3

Nature Genetics

ChromatinGenome InstabilityTranscriptional RegulationMendelian DisorderX-linked Mecp2 +9