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 ...

Association of Timely Comprehensive Genomic Profiling With Precision Oncology Treatment Use and Patient Outcomes in Advanced Non–Small-Cell Lung Cancer Somatic chromosomal alterations, particularly ...

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 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 ...

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 ...

New research finds one copy of a protective genetic variant, APOE3 Christchurch, delayed onset of Alzheimer's disease for 27 members of a ~6,000-person family in Colombia at high risk for early-onset ...