Variation in the human genome sequence is key to understanding susceptibility to disease
in modern populations and the history of ancestral populations. Unlocking this information …

Knowledge about structural variation in the human genome has grown tremendously in the
past few years. However, inversions represent a class of structural variation that remains …

Abstract The 1000 Genomes Project set out to provide a comprehensive description of
common human genetic variation by applying whole-genome sequencing to a diverse set of …

We identified 255 loci across the human genome that contain genomic imbalances among
unrelated individuals. Twenty-four variants are present in> 10% of the individuals that we …

Recent studies show that along with single nucleotide polymorphisms and small indels,
larger structural variants among human individuals are common. The Human Genome …

The spatial distribution of genetic variation within proteins is shaped by evolutionary
constraint and provides insight into the functional importance of protein regions and the …

This perspective focuses on advances in genome technology over the last 25 years and
their impact on germline variant discovery within the field of human genetics. The field has …

The lack of tools to identify causative variants from sequencing data greatly limits the
promise of precision medicine. Previous studies suggest that one-third of disease …

Patterns of amino acid conservation have served as a tool for understanding protein
evolution. The same principles have also found broad application in human genomics …

Abstract ClinVar (http://www. ncbi. nlm. nih. gov/clinvar/) provides a freely available archive
of reports of relationships among medically important variants and phenotypes. ClinVar …