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 ...

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 ...

Copy number variation (CNV) refers to an increase or decrease in the number of copies of a DNA sequence in a genome, which can subsequently be implicit in promoting aberrant gene expression patterns ...

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 ...

Precision medicine has revolutionized the landscape of neurological care, shifting from “one-size-fits-all” approaches to personalized strategies rooted in ...