This important study introduces a new biology-informed strategy for deep learning models aiming to predict mutational effects in antibody sequences. It provides solid evidence that separating ...

The researchers noted that most genomic analyses have traditionally focused on commonly mutated genes, which can pinpoint mutations occurring most frequently but does not account for the extent to ...

Stanford Medicine researchers sifted through thousands of single nucleotide mutations in DNA to identify fewer than 400 that are functionally associated with inherited cancer risk. Thousands of single ...

Synonymous mutations have long been ignored in cancer studies since they don’t affect the amino acid sequences of proteins. But research increasingly reveals that they can have disease-driving effects ...

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 ...

Recent research from the lab of Dr. Nicolas Lehrbach, an Assistant Professor in the Basic Sciences Division at Fred Hutch, discovered that altering nucleotide metabolism may bypass proteasome defects ...

This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...

These sequences are extremely prone to mutations and rank among the most functionally important regions in the entire human genome, together with protein-coding sequences,” said Donate Weghorn, a ...

Mice pups conceived with in vitro fertilization (IVF) in the lab have slightly increased rates of DNA errors, or mutations, compared to pups conceived naturally, a new study on artificial reproductive ...

Mice pups conceived with in vitro fertilization (IVF) in the lab have slightly increased rates of DNA errors, or mutations, compared to pups conceived naturally, a new study on artificial reproductive ...