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 ...

A newly developed AI can predict which diseases specific genetic mutations are likely to cause, not just whether they are ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

While most known types of DNA damage are fixed by our cells' in-house DNA repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means that ...

In a step toward treating mitochondrial diseases, researchers at the University Medical Center Utrecht and their colleagues have used mitochondrial base editing (mtBE) to successfully edit harmful ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

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Characteristics of Clonal Hematopoiesis (CH) Mutations - a) We identified somatic mutations in known clonal hematopoiesis of indeterminate potential (CHIP) driver genes using peripheral blood ...