RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...

A protein’s sequence defines its properties, including biophysical characteristics, intracellular function, pathogenicity and druggability. Protein variant effect measurements have provided valuable ...

Protein engineering has recently seen tremendous transformation due to machine learning (ML) tools that predict structure from sequence at unprecedented precision. Predicting catalytic activity, ...