Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …

Duplications are the primary force by which new gene functions arise and provide a
substrate for large-scale structural variation. Analysis of thousands of genomes shows that …

Noncoding repeat expansions cause various neuromuscular diseases, including myotonic
dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Two randomized field experiments tested a social-psychological intervention designed to
improve minority student performance and increase our understanding of how psychological …

Background Angiosarcoma is an uncommon endothelial malignancy and a highly
aggressive soft tissue sarcoma. Due to its infiltrative nature, successful management of …

Common copy number variations (CNVs) represent a significant source of genetic diversity,
yet their influence on phenotypic variability, including disease susceptibility, remains poorly …

The reference sequence for each human chromosome provides the framework for
understanding genome function, variation and evolution. Here we report the finished …

Abstract Detection of Identical-By-Descent (IBD) segments provides a fundamental measure
of genetic relatedness and plays a key role in a wide range of analyses. We develop …

One of the unique insights provided by the growing number of fully sequenced genomes is
the pervasiveness of gene duplication and gene loss. Indeed, several metrics now suggest …