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 ...

Hundreds of millions of people worldwide are affected by rare diseases. Behind every case is a family enduring a diagnostic odyssey that can last for years. To improve how public health systems help ...

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 ...

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

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 ...

Many drugs still fail after promising preclinical results, raising difficult questions about how disease is modelled in the ...

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 ...

Researchers at the University of Oregon have developed an artificial intelligence tool that can read genetic code the way large language models like ChatGPT read text. Scanning the genome for ...