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 ...

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 ...

Among the forms of monogenic macular degeneration, the most common is Stargardt disease. This disease is caused by mutations in the ATP-binding cassette transporter alpha 4 subunit (ABCA4) gene, ...

These sequences are extremely prone to mutations and rank among the most functionally important regions in the entire human ...

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 ...

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 ...

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 ...

Researchers are adding new evidence to the emerging concept that 'silent' or synonymous mutations may have crucial consequences. Their study showed how a synonymous mutation in one gene can ...

When it comes to identifying cancer-driving mutations, research has focused almost exclusively on understanding how mutations in the coding region of genes may alter a protein’s function to promote ...

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 ...