Optical genome mapping: hidden structural variants in families with inherited retinal diseases Kornelia Neveling1,3, Zeinab Fadaie1,2, Suzanne de Bruijn1,2, Tuomo Mantere1, Ronny Derks1, Lonneke ...

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 ...

A new study has been published in Nature Communications, presenting the first comprehensive atlas of allele-specific DNA methylation across 39 primary human cell types. The study was led by Ph.D.

A new Alzheimer's study has produced a first-of-its-kind genetic map, which could provide vital insights into the cause-and-effect sequences of gene activity that may be driving the disease in the ...

How does our DNA store the massive amount of information needed to build a human being? And what happens when it's stored incorrectly? Jesse Dixon, MD, Ph.D., has spent years studying the way this ...

SAN DIEGO, June 18, 2025 (GLOBE NEWSWIRE) -- Bionano Genomics (NASDAQ: BNGO) recently participated in the European Society of Human Genetics (ESHG) conference held in Milan, Italy, from May 24-27, ...

It’s called a pangenome, and it could explain the DNA that makes each of us unique. The joke about the Human Genome Project is how many times it’s been finished, but not actually. The first time was ...

Genetically tailored treatment plans for children with a type of kidney cancer could help provide the most effective care while minimizing side effects as much as possible. Researchers at the Wellcome ...