Improvements in single-cell whole-genome sequencing (scWGS) assays have enabled detailed characterization of somatic copy number alterations (CNAs) at the single-cell level. Yet, current computational ...

Decades of genetic association testing in human cohorts have provided important insights into the genetic architecture and biological underpinnings of complex traits and diseases. However, for certain ...

Exome sequencing (ES) is commonly used to diagnose Mendelian disorders, which occur when pathogenic variant(s) in a gene are either inherited from one or both parents or are de novo. Examples of such ...

A new analysis explores the genetic liability of psychiatric disorders using polygenic scores and recurrent copy number variants.