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 ...

The most complex engineering of human cell lines ever has been achieved by scientists, revealing that our genomes are more resilient to significant structural changes than was previously thought. The ...

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

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

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 ...

The most complex engineering of human cell lines ever has been achieved by scientists, revealing that our genomes are more resilient to significant structural changes than was previously thought.

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/ -- ...