NHGRI Archives
Neural networks probe proteins
May. 9, 2023—A machine learning method based on neural networks outperformed a mutational scanning model at identifying disease-causing mutations in an Alzheimer’s disease protein, suggesting the method could be useful for facilitating therapeutic design.
Genetics and chronic pain
Apr. 20, 2023—Polygenic risk scores — scores that reflect the influence of common genetic variants — could be used to predict the likelihood of developing chronic overlapping pain conditions and guide biomarker and targeted prevention efforts.
COVID on Twitter: town vs. country
Apr. 11, 2023—A natural language processing analysis of 407 million tweets from May 2020 to January 2022 captures the rural-urban divide regarding COVID-19.
Inflammation implicated in exfoliation syndrome
Mar. 28, 2023—Computational genetics tools have implicated inflammatory pathways in exfoliation syndrome, the most common cause of secondary glaucoma, which can result in blindness.
Researchers develop framework for multiancestry genomic studies
Dec. 8, 2022—Vanderbilt researchers have developed a framework for the analysis of multiancestry, large-scale genomic studies across multiple biobanks.
PheWAS reveals post-COVID-19 diagnoses
Sep. 8, 2022—Using a high-throughput informatics technique and electronic health records, Vanderbilt researchers found that COVID-19 survivors had an increased risk for more than 40 new diagnoses.
Genotype-specific blood counts
Aug. 11, 2022—Vanderbilt researchers report genotype-specific reference ranges to improve interpretation of laboratory blood results in African Americans with a common gene variant that lowers white blood cell counts.
Gene variants and transplant drug dose
May. 9, 2022—Genotyping multiple enzymes that metabolize the immunosuppressive drug tacrolimus — common used for lung transplant recipients — is important for correct dosing of the drug, Vanderbilt researchers found.
Gene network linked to Type 2 diabetes
May. 5, 2022—Vanderbilt researchers used a novel analytical approach to identify a network of genes associated with Type 2 diabetes, including 31 genes that had not previously been associated with the disease.
Studies combine genetic testing, electronic health records to find undiagnosed diseases
Apr. 28, 2022—Combining genetic testing with information from electronic health records revealed undiagnosed heart rhythm disorders and new conditions associated with inherited cancer gene mutations.
Calculating risk for uterine fibroids
Apr. 26, 2022—Vanderbilt researchers have constructed a polygenic risk score for uterine fibroids that will be useful for exploring causes of these benign tumors and identifying novel drug targets and therapies.
When science spills onto social media
Apr. 21, 2022—Vanderbilt researchers report that social media posts can offer insights into how the public feels about genome editing, with stances varying across platforms and differing from those of academics and policy makers.
