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 ...

Regulatory sequences encode crucial gene expression signals, yet the sequence characteristics that determine their functionality across species remain obscure. Deep generative models have demonstrated ...