The National Center for Biotechnology Information has created the dbGaP public repository
for individual-level phenotype, exposure, genotype and sequence data and the associations …

Parkinson's disease is a common disorder that leads to motor and cognitive disability. We
performed a genome-wide association study of 2,000 individuals with Parkinson's disease (…

Genome‐wide scans of nucleotide variation in human subjects are providing an increasing
number of replicated associations with complex disease traits. Most of the variants detected …

Purpose: Copy number variants have emerged as a major cause of human disease such as
autism and intellectual disabilities. Because copy number variants are common in normal …

There are few better examples of the need for data sharing than in the rare disease community,
where patients, physicians, and researchers must search for “the needle in a haystack” to …

Genome‐wide association studies (GWAS) are being conducted at an unprecedented rate
in population‐based cohorts and have increased our understanding of the pathophysiology …

We have designed and developed a data integration and visualization platform that provides
evidence about the association of known and potential drug targets with diseases. The …

Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with
rare genetic diseases shortens their "diagnostic odyssey," improves disease management, …

The European Genome-phenome Archive (EGA) is a permanent archive that promotes the
distribution and sharing of genetic and phenotypic data consented for specific approved uses …

Much has changed in the last two years at DGVa ( http://www.ebi.ac.uk/dgva ) and dbVar (
http://www.ncbi.nlm.nih.gov/dbvar ). We are now processing direct submissions rather than …