Structural variants in the human genome include cytogenetically detectable and submicroscopic deletions, duplications, large-scale copy-number variants, inversions and translocations. The ability ...

Multiplexed assays of variant effect are an increasingly important tool in genetic research and including more context specificity in their design would aid interpretation and discovery.

Copy number variation (CNV) has recently been identified ... geneticists to consider an alternate paradigm for the genetic basis of human diseases. Instead of considering disease to be largely ...

Aim: The present study aimed to investigate the human genetic diversity of the CYP450 superfamily in order to identify functional interethnic differences and analyze the role of CYP450 enzymes in ...

The human genome is organized into 46 chromosomes ... researcher at the Department of Immunology, Genetics and Pathology and ...

A genome study reveals no genetic ties between Armenians and the Balkans, disproving long-held ancestry theories. The ...

In a study published Nov. 21 in the journal Nature Human Behaviour, researchers have uncovered significant genetic ...

New research from the Human Cell Atlas offers insights into cell development, disease mechanisms, and genetic influences, ...

Researchers with the global Human Cell Atlas (HCA) consortium report significant progress in their quest for a better ...

A new study reveals that your sweet tooth could be genetic. Researchers found that the sucrase-isomaltase gene plays a key ...