Individuals with germline PTEN mutations who have autism spectrum disorder or developmental delay often also have copy number variations, a new study has found.
Researchers used a statistical approach to identify Neanderthal ancestry in thousands of individuals, refining estimates on the proportion of ancestry in various human populations.
Highlights included mass spec-focused developments like data-independent acquisition and ion mobility along with platforms including Thermo Fisher's Q Exactive.
By analyzing the genomes of the admixed descendants of the vanished Brazilian coastal Tupí population, researchers worked out how they likely settled there thousands of years ago.
A genome-wide association meta-analysis involving almost one million heart failure cases and controls identified 11 risk loci and helped distinguish potential causal contributors.
In a large group of participants followed for decades, baseline body mass index outperformed a SNP-based obesity risk score for predicting midlife weight.
A genome-wide association study involving some 200,000 veterans unearthed five anxiety risk loci in European Americans and another risk locus in African Americans.
Simulations suggested prostate cancer screening informed by polygenic risk scores is more cost effective and less prone to overdiagnoses than screening based on age alone.
A genome-wide association study meta-analysis of eight psychiatric conditions led to new and known risk loci, and revealed three distinct groups of conditions.
Using systems biology, investigators put cancer risk SNPs in a network context, identifying immune, tumor-related, and other genes influenced by the variants in multiple tissue types.
Veracyte has also acquired Nanostring's Prosigna breast cancer and LymphMark lymphoma assays and plans to develop diagnostic tests using the nCounter platform.
The personalized medicine company hopes to use the new array to inform new consumer and clinical tests, while also making it available to others for research.
The method, dubbed GoPhAST-R, was codeveloped by researcher from the Broad Institute and NanoString, which now hopes to work with a partner to commercialize it.
Nobel laureates and scientific societies urge NIH and the Department of Health and Human Services to revisit the recent decision to end funding for a coronavirus grant.
In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.
