National Human Genome Research Institute

A global reference for human genetic variation

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

Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the f...

The Cancer Genome Atlas Pan-Cancer analysis project

High throughput ANI analysis of 90K prokaryotic genomes reveals clear species boundaries

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

This FAIRsharing record describes: The Genome-Wide Association Studies (GWAS) Catalog provides a consistent, searchable, visualisable and freely available database of published ...

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

We have developed an online catalog of SNP-trait associations from published genome-wide association studies for use in investigating genomic characteristics of trait/disease-as...

Topographical and Temporal Diversity of the Human Skin Microbiome

The Close and Personal Biome Fortunately, our skin is readily accessible for ecological studies of the microbial communities that influence health and disease states. Grice et a...

A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants

Identifying the genetic variants that increase the risk of type 2 diabetes (T2D) in humans has been a formidable challenge. Adopting a genome-wide association strategy, we genot...

Classification and diagnostic prediction of cancers using gene expression profiling and artificial neural networks

Gene-Expression Profiles in Hereditary Breast Cancer

Significantly different groups of genes are expressed by breast cancers with BRCA1 mutations and breast cancers with BRCA2 mutations. Our results suggest that a heritable mutati...