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

WAF1, a potential mediator of p53 tumor suppression

Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease

Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has been documented for t...

Canu: scalable and accurate long-read assembly via adaptive <i>k</i> -mer weighting and repeat separation

Long-read single-molecule sequencing has revolutionized de novo genome assembly and enabled the automated reconstruction of reference-quality genomes. However, given the relativ...

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...

Accurate whole human genome sequencing using reversible terminator chemistry

DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400–800 b...