structural variation analysis

In Genome Biology this week: transcription factor use among brittle stars, single-cell RNA sequencing strategy, and more.

The Fix-C method is a modified version of Hi-C and makes use of the fact that the structural information relevant in cancer is preserved in FFPE samples.

With its Direct Labeling and Staining (DLS) chemistry, currently available to early-access users, Bionano is pushing forward with more contiguous genome maps.

As long-read sequencing and genome mapping technologies improve, researchers have begun using them in the clinic to identify once undetectable structural variants. 

A tumor sequencing study suggests the retention or deletion of interstitial genes within the TMPRSS2-ERG gene fusion may coincide with prostate cancer progression.

In Genome Research this week: computational method for detecting repeat expansions, approach to find mosaic structural changes, and more.

Researchers found that dogs have structural variants in two genes that have previously been linked to Williams-Beuren syndrome, a condition marked by hypersociability.

The firms will develop tests in the hematology oncology space where detecting large structural variations of the genome is crucial for accurate diagnoses. 

The Brown University spinout plans to market its instrument, Nabsys HD-Mapping, for genome mapping, de novo assembly, and structural variant detection. 

The Mayo Medical Laboratories laboratory is offering mate-pair sequencing for cancer and inherited disease indications, with plans to expand the service.


Under a proposed spending bill, the US National Institutes of Health would see an additional $3 billion in funding.

Researchers from the University of Oxford and the University of Sydney sequenced numerous platypus genomes to study their population history.

Robert Redfield, the new pick to lead the US Centers for Disease Control and Prevention, has faced criticism for some of his work.

In Nature this week: sequenced genomes of five additional Neanderthals, and more.