NHGRI

Neural networks probe proteins

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

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

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

Computational genetics tools have implicated inflammatory pathways in exfoliation syndrome, the most common cause of secondary glaucoma, which can result in blindness.

PheWAS reveals post-COVID-19 diagnoses

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

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.

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