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 ...

For decades, large stretches of human DNA were dismissed as "junk" and considered to serve no real purpose. In a new study published in Cell Genomics, researchers at Lund University in Sweden show ...

Deep learning variant calling has transformed genomic accuracy. Discover how DeepVariant works, outperforms classical tools, ...

Repetitive elements make up over 50% of the human genome. Recent advances in long-read sequencing experimental approaches and data analysis algorithms have made it possible to characterize these ...

The race to complete the human pangenome—which comprises all genetic information across the human species—has been underway since 2022, when the first complete reference human genome sequence was ...

Robertsonian chromosomes (ROB) are a type of structurally variant chromosome that is created when two chromosomes fuse together to form an unusual bond. Found commonly in nature, these chromosomes are ...