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 ...

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.

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 ...

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 ...

Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...

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), ...

Researchers have used saturation genome editing to test every variant in the non coding gene RNU4 2, revealing new pathogenic ...

The research, part of the Indigenous American Genomic Diversity Project, combined newly sequenced genomes with existing databases to analyze a total of 199 contemporary Indigenous individuals from 53 ...

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 ...