Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic form of diabetes. This report describes a case with hepatocyte nuclear factor 1-alpha ( HNF1A )-MODY due to a novel ...

Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only ...

Mount Sinai scientists developed V2P, a powerful new AI tool that predicts how specific DNA mutations translate into disease, ...

Researchers at Karolinska Institutet and KTH have developed a computational method that can reveal how cells change and ...

Scientists have identified a small flaw in the enzyme GPX4 that prevents neurons from defending themselves. This mutation, ...

Three bright blue dogs spotted outside the Chernobyl nuclear plant in October 2024 triggered a global wave of speculation that quickly outpaced the facts. Photos of the animals, roaming near the edge ...

A recent study highlights how DNA microarray technology enables high-throughput gene analysis, supporting variation detection, expression ...

Tatiana Schlossberg, the youngest granddaughter of President John F. Kennedy, recently revealed she was diagnosed with terminal acute myeloid leukemia (AML) due to a rare genetic anomaly. In a ...

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 ...

Human semen not only accumulates genetic mutations with age; as the percentage of sperm carrying potentially serious mutations increases, so does the risk of developing diseases in offspring. This is ...

HINXTON, England — At first glance, the news sounds reassuring: sperm cells accumulate genetic mutations eight times slower than blood cells, making them among the most protected cells in the male ...