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 computer algorithm can efficiently find genetic mutations that work together to drive cancer as well as other important genetic clues that researchers might someday use to develop new treatments for ...

Proteogenomics explores how genetic information translates into protein expression and function, and the role of changes across DNA, RNA, and proteins in influencing disease development and ...

Proteins are like Spider-Man in the multiverse. The underlying story is the same: each building block of a protein is based on a three-letter DNA code. However, change one letter, and the same protein ...

Movies such as ‘X-Men,’ ‘Fantastic Four,’ and ‘The Guardians,’ which showcase vibrant mutant heroes, have captivated global audiences. Recently, a high-throughput genetic screening of meiotic ...

Artificial Intelligence (AI) has become a potent tool in identifying genetic mutations. By leveraging AI capabilities, scientists can rapidly and accurately analyze vast amounts of data. This ...

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 ...