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 ...

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 ...

A study led by UCLA Health Jonsson Comprehensive Cancer Center investigators reveals how melanoma, the deadliest form of skin cancer, evolves to resist immunotherapy and identifies a potential ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.

Standard laboratory tests can fail to detect many disease-causing DNA changes. Now, a novel 3D chromosome mapping method can reliably reveal these hidden structural variants and lead to new ...

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 ...

Accurate prediction of CYP2D6 activity from genotype data is of utmost importance as CYP2D6 pharmacogenetic (PGx) testing is increasingly used to guide drug therapy. However, given the complexity of ...