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 ...

The nCounter® Copy Number Variation CodeSets enable researchers to interrogate up to 800 regions of the human genome in a single multiplexed reaction with the least hands-on time of any CNV platform.

In a study led by Jan Korbel at the European Molecular Biology Laboratory (EMBL) and Ashley Sanders at the Berlin Institute for Medical Systems Biology of the Max Delbrück Center (MDC-BIMSB), ...

Ribosomal DNA (rDNA) is present in hundreds of copies in the genome, but has not previously been part of genetic analyses. A new study of 500,000 individuals indicates that people who have more copies ...

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 ...

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 ...

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 ...