Precision medicine models often rely on data from Northern European populations, leading to treatment inequities. Genetic diversity is crucial for understanding disease risk and treatment efficacy, as ...

Population-based pathogenic variant testing identified breast cancer susceptibility gene carriers who would often be missed ...

While any two human genomes are about 99.9% identical, genetic variation in the remaining 0.1% plays an important role in shaping human diversity, including a person's risk for developing certain ...

As language models learn to interpret words in a sentence, protein language models learn how amino acids work together within a protein. Konstantina Tzavella, who used artificial intelligence in her ...

Researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when ...

The mechanism of skeletal muscle contraction is a process that relies on calcium signaling. However, the physiological role of calcium-induced calcium release (CICR) through the ryanodine receptor ...

Scientists have uncovered a surprising new picture of human origins that challenges the long-held idea of a single ancestral population in Africa. By analyzing genetic data from diverse modern African ...

A new computational tool called MARRVEL-MCP helps researchers move toward genetic diagnoses more efficiently by analyzing and interpreting vast amounts of genetic and biological information using ...

Whether we are predisposed to particular diseases may depend to a large extent on variations in our genomes, but the influence on the presentation of certain pathological traits of genetic variants ...