Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...

An international team of scientists has decoded some of the most stubborn, overlooked regions of the human genome using complete sequences from 65 individuals across diverse ancestries. This milestone ...

Structural variations (SVs)—large-scale changes in DNA sequence—play a crucial role in shaping traits such as yield, quality, and environmental adaptation in crops. However, many of these variations ...

Sequencing nearly half a million genomes, researchers show that most additive genetic influences on height, lipids, and other complex traits are now directly measurable, while pinpointing ultra-rare ...

SAVANA uses a machine learning algorithm to identify cancer-specific structural variations and copy number aberrations in long-read DNA sequencing data. The complex structure of cancer genomes means ...

Recent advances in genome sequencing have improved all aspects of uncovering the human genome. One of the unlocked areas includes variant calling, or identifying and cataloging genetic variations, ...

Application of CRISPR/Cas9 technology to repair double-strand breaks caused by sample preparation in EGM improves accuracy and scope of Ohm X™ Platform PROVIDENCE, R.I., Oct. 16, 2025 /PRNewswire/ -- ...

A landmark study harnesses long-read sequencing to reveal vast, previously undetected structural variations in human DNA, reshaping our understanding of genetics and disease potential. Study: ...

Structural variations (SVs), including insertions, deletions, inversions, and substitutions, can profoundly influence gene regulation and phenotype.

Short-read sequencing has helped scientists identify and study genetic variants that increase Alzheimer’s disease risk, for example in the APOE, TREM2, and other genes. Yet these methods fail to ...