Cohort-wide sequencing studies have revealed that the largest category of variants is those deemed ‘rare’, even for the subset located in coding regions (99% of known coding variants are seen in less ...

Single-cell sequencing technologies are revolutionizing biomedical research and clinical practice by enabling the comprehensive characterization of cells from complex tissues 1,2. In contrast to bulk ...

The term phenotype is used to call the complete sets of behaviors and traits, which can be observed by an organism. The ...

A phenotype refers to the observable characteristics or traits of an organism that result from the interaction between its genotype (genetic makeup) and the environment. It encompasses an organism's ...