A new study has characterized the "average" human genome, providing key information on normal human genetic variation and ...

Data from UK and US biobanks showed that people recruited with their parents carried around 63 new genetic variants absent ...

Each person also carries between one and three rare variants previously shown to cause serious genetic diseases, and another ...

Clinicians' ability to diagnose and treat chronic diseases is limited by scientific uncertainty around factors contributing to disease risk. A study published September 2 in the journal PLOS Biology ...

Single-nucleotide mutation maps and simulations indicate that mutation bias and GC-biased gene conversion largely shape nucleotide composition near human transcription start sites.

An analysis of nearly one million genomes finds that genetic risk is common, but the presence of risk-related DNA does not ...

A new Yale-led study provides one of the most detailed and comprehensive analyses to date of genetic variation in human populations in Oceania, filling a major gap in representation in genomics ...

A comparative network analysis identified 984 unusually fast-evolving human brain genes and 234 potential linker genes ...