Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

Tumors contain thousands of genetic changes, but only a few are actually cancer-causing. A quicker way to identify these driver mutations could lead to more targeted cancer treatments.

A genomics study reveals the parentage of a long-mysterious creature called a kunga, the earliest-known hybrid animal bred by humans.

A study probes how genetic duplications that can swell protein length influence human traits such as height and kidney function.

Genetic, transcriptomic, and epigenetic data reveal molecular mechanisms tying these disorders to each other and to immune disfunction.

Officials had initially linked 97 cases to a single conference held by Biogen in February in Boston, but a new study tracking viral genomes suggests the number may be as high as 20,000.

Pangolins are poached for their scales and meat, leading researchers to develop a set of molecular tools to help track and mitigate the trade.

Chips used by some direct-to-consumer genetic testing firms display a false positive rate of upwards of 85 percent when screening for rare variants, a new study finds.  

Its screen for selected variants of some disease-linked genes gives customers an incomplete picture of their risk—do they know?

A genomic interrogation of homosexuality turns up speculative links between genetic elements and sexual orientation, but researchers say the study is too small to be significant. 

Researchers identify 72 novel genetic variants associated with breast cancer risk.

Researchers have catalogued mutations in the coding regions of 36 of the most important mouse strains.

Yeast study finds many instances—often among related genes—in which a mutation in one gene cancels the negative effects of a mutation in another.

Once implanted in mice, the edited stem cells produced normal hemoglobin.

A study identifies genetic variants that are linked to multiple phenotypes.

In a large genome-wide association study, researchers from 23andMe locate 15 DNA regions associated with people’s preferences for early morning starts.

A point mutation analysis of the entire human genome finds that alterations to as many as 7.5 percent of nucleotides may have contributed to humans’ evolutionary split from chimpanzees.

A genome-wide association study identifies a SNP that could help explain the relatively low rates of breast cancer among Latina women.

Eight genetic loci could partially explain why some people drink more coffee than others.