An insightful mini-review published in Genomic Psychiatry synthesizes the rapidly expanding landscape of molecular genetic research on common epilepsies, assembling evidence from genome-wide ...

A new synthesis finds that common epilepsies are driven by thousands of tiny-effect genetic variants, most still ...

Copy number variations (CNVs) are a pervasive form of genomic variation that entail duplications or deletions of DNA segments ranging from kilobases to megabases. In animal genomes, CNVs contribute ...

"Our study demonstrates that incorporating copy number variant analysis into exome sequencing workflows increases diagnostic yield in diverse pediatric cohorts," Dr. Ji explains. This approach ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...