Race, ethnicity, and ancestry are common classification variables used in health research.
However, there has been no formal agreement on the definitions of these terms, resulting in …

Almost fifty years after its first introduction into clinical care, clozapine remains the only
evidence-based pharmacological option for treatment-resistant schizophrenia (TRS), which …

Typical genotyping workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …

The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …

Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

Recent advances in genomics have revealed a wide spectrum of genetic variants
associated with neurodevelopmental disorders at an unprecedented scale. An increasing …

The lifetime of proteins in synapses is important for their signaling, maintenance, and
remodeling, and for memory duration. We quantified the lifetime of endogenous PSD95, an …

The impact of copy-number variations (CNVs) on complex human traits remains
understudied. We called CNVs in 331,522 UK Biobank participants and performed genome …

Abstract Copy Number Variants (CNVs) are deletions, duplications or insertions larger than
50 base pairs. They account for a large percentage of the normal genome variation and play …

Advances in whole-genome sequencing (WGS) promise to enable the accurate and
comprehensive structural variant (SV) discovery. Dissecting SVs from WGS data presents a …