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structural variation analysis

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.

A genomic analysis of melanoma subtypes affecting the skin, mucosal tissues, and hands or feet found a range of mutations and structural changes.

Researchers reported that structural variants also tend to have larger effect sizes than single-nucleotide variants or insertions and deletions.

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A South African university has told the Wellcome Sanger Institute to return DNA samples it has from indigenous African communities, The Times reports.

The University of California, Berkeley's Rasmus Nielsen and Xinzhu Wei have retracted their CCR5 gene paper due to a technical artifact.

 

University of Virginia researchers are exploring a genetic risk test to gauge type 1 diabetes risk, NPR reports.

In PNAS this week: researchers compare two high-grade neuroendocrine lung cancers, height among ancient Europeans, and more.