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The researchers used tumor and germline whole-genome sequencing, RNA sequencing, and methylome analysis to elucidate the molecular basis of high-risk cancers.
Researchers found ancestry-specific risk variants and developed a better polygenic risk score based on a GWAS and subsequent meta-analysis.
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.
The strategy promises to offer patients the best possible predictive, preventative, and personalized care underpinned by genome sequencing.
A portion of patients with life-threatening COVID-19 pneumonia had inborn errors of TLR3- and IRF7-dependent type I IFN immunity.
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.
Participants were especially reluctant to donate their de-identified DNA and medical data to for-profit companies or to multiple entities.
Researchers studied the genetic structure of Viking Age Scandinavian populations, along with migrations and the adoption of Viking culture by non-Scandinavians.
Researchers characterized more than 100 ancient equid samples stretching over some 9,000 years, spanning the early Neolithic Age to the Iron Age.
A genome-wide association study focused on hundreds of immune cell features identified genetic risk variants involved in several autoimmune conditions.
The University of Groningen-led team further uncovered variants associated with risk of dilated cardiomyopathy.
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.
Using transcriptomic, metabolomic, metagenomic, and other data types, a team identified purine metabolism as a potential target for intervention.
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.
The analysis drew on thousands of cases and controls and suggested a role for an autoimmune factor in penicillin allergies.
New analyses indicate the P.1 variant found in Brazil may be able to infect people who have already had COVID-19, the New York Times reports.
According to CNBC, Novavax's CEO says its vaccine could be authorized in the US as early as May.
The US National Institutes of Health has a new initiative to address structural racism in biomedical research.
In PNAS this week: GWAS of TLV-1-associated myelopathy/tropical spastic paraparesis, analysis of twins with hypertrophic cardiomyopathy, and more.