The researchers used tumor and germline whole-genome sequencing, RNA sequencing, and methylome analysis to elucidate the molecular basis of high-risk cancers.
A gene cluster inherited by modern humans from Neanderthals was recently identified as a risk locus for respiratory failure following SARS-CoV-2 infection.
Whole-exome sequencing of 250 parent-offspring trios provided evidence for genetically mediated dysregulation of early neuronal connectivity in cerebral palsy.
The study, involving almost 1.8 million individuals, further found only modest overlap between the genetic underpinnings of left-handedness and ambidexterity.
Sequencing of ancient samples showed that Denisovan Y chromosomes split around 700,000 years ago from a lineage shared by Neanderthals and modern humans.
The program is in its third year monitoring individuals with these mutations to try to detect disease early, understand their risk, and develop preventive treatments.
Researchers studied the genetic structure of Viking Age Scandinavian populations, along with migrations and the adoption of Viking culture by non-Scandinavians.
A genome-wide association study focused on hundreds of immune cell features identified genetic risk variants involved in several autoimmune conditions.
The GTEx Consortium, which has been working for 10 years, analyzed how genetic variants affect gene regulation, and how this contributes to disease and traits.
With targeted sequence data on more than 500 cases of the lymphatic fluid accumulation condition, researchers found and explored lymphedema-related ANGPT2 mutations.
Using genome-wide association study, cell line, organoid, and other data, researchers tracked down polygenic contributors to drug-induced liver injury in hepatocytes.
A new study found that FOXA1 missense mutations were enriched in metastatic breast tumors and were associated with lower response to aromatase inhibitors.
