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 ...

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 ...

Genetic ancestry plays a key role in determining the behavior of head and neck tumors and may help explain why African-American patients survive for half as long as their counterparts of European ...

A form of rare genomic structural variation called copy number variants (CNVs) may be more closely associated with schizophrenia than bipolar disorder. A new study published in Biological Psychiatry ...

Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, it’s usually to try to identify a disease-causing gene to help guide ...

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...

A breakthrough method for analyzing the DNA of centuries-old plant samples has given scientists an edge in combating the spread of invasive plants. Researchers from Monash University and the ...

Genetic research uncovers a continuum between diabetes forms, offering insights for precision medicine. Study: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the ...

“We have discovered that people carrying rare, naturally occurring mutations in a gene called CHRNB3 tend to smoke significantly fewer cigarettes per day,” explain the study’s lead authors, ...