New research assessing the efficacy of optical genome mapping (OGM) in a group of patients with acute leukemia has ...

This image depicts the detection of structural variants (SVs) at low sequencing coverage in both unique and repetitive regions by genomic proximity mapping (GPM), compared with other SV-calling ...

April 14, 2025 – Genome Research (https://genome.org) publishes a second special issue highlighting advances in long-read sequencing applications in biology and medicine. In this second Special Issue, ...

DNA's double helix has long stood as the symbol of life’s code. But buried within the genome lies a deeper level of complexity. One of the more intriguing discoveries in recent years is the i-motif—a ...

The Human Genome Project changed everything. A map of the entire human sequence of DNA was the starting point for an enormous number of discoveries, from disease genes to how humans evolved. But DNA ...

Standard laboratory tests can fail to detect many disease-causing DNA changes. Now, a novel 3D chromosome mapping method can reliably reveal these hidden structural variants and lead to new ...