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

UMAP: Uniform Manifold Approximation and Projection

Leland McInnes, John Healy, Nathaniel Saul, +1

The Journal of Open Source Software

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Geraldine Van Der Auwera, Mauricio O. Carneiro, Christopher Hartl, +12

Current Protocols in Bioinformatics

Genetic effects on gene expression across human tissues

Nature

GeneticsGenomicsGene Expression ProfilingGenome-wide Association StudyGenetic Analysis +14

Sequence Variations in <i>PCSK9,</i> Low LDL, and Protection against Coronary Heart Disease

Jonathan C. Cohen, Eric Boerwinkle, Thomas H. Mosley, +1

New England Journal of Medicine

Partitioning heritability by functional annotation using genome-wide association summary statistics

Hilary K. Finucane, Brendan Bulik‐Sullivan, Alexander Gusev, +18

Nature Genetics

Genome-wide Association StudyGenetic AnalysisGenotype-phenotype AssociationGeneticsLinkage Analysis +10

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Benjamin M. Neale, Yan Kou, Li Liu, +56

Nature

Neurodevelopmental DisordersAutism Spectrum DisordersSyndromic AutismGeneticsGenetic Disorder +6

De novo mutations in schizophrenia implicate synaptic networks

Menachem Fromer, Andrew Pocklington, David H. Kavanagh, +29

Nature

Synaptic PlasticityPsychotic DisorderPsychiatric GeneticsSchizophreniaConnectomics +5

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Daniel G. MacArthur, Suganthi Balasubramanian, Adam Frankish, +48

Science

A framework for the interpretation of de novo mutation in human disease

Kaitlin E. Samocha, Elise Robinson, Stephan Sanders, +23

Nature Genetics

Somatic VariantGenetic DisorderMedicineGeneticsHuman Disease +5