Genomic sequencing reveals many rare or private heterozygous missense variants per person. These rare variants occur across numerous genes, many of which are not yet associated with any known human ...

In genomes, three letters or bases of DNA encode an amino acid. Amino acids are then strung together by the cell to create proteins. There is some redundancy in that genetic code, but there are single ...

Reporting on their findings in the British Journal of Haematology, researchers have used immunohistochemistry (IHC) to leverage p53 expression as an identifier of mantle cell lymphoma (MCL) patients ...

With its 2,214 amino acids and its dynamic lifestyle as an endosomal recycling receptor, SORL1 is rife with opportunities for mutations that could thwart its function. The size and splendor of this ...

The information that is carried by the genetic code provides a set of "instructions" for "building" and "maintaining" a living organism. A useful analogy might be to think of the genetic code being ...

Scientists have discovered an association between a variant in the synaptonemal complex protein, SYCE2, and pregnancy loss through the effects of recombination. An international collaboration led by ...

About 10 years ago, Žiga Avsec was a PhD physics student who found himself taking a crash course in genomics via a university module on machine learning. He was soon working in a lab that studied rare ...

Genes, which are the blueprints for proteins, are described by the base sequence of DNA, and mutations in this description result in mutations in the amino acid sequence, resulting in abnormalities in ...