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.
One team examined single-nucleotide variation, indels, and copy-number variations in ASD, while the other focused on large structural variations.
Holden Thorp is to be the new editor-in-chief of Science and its related journals.
A genetic analysis of salmon scales collected over the course of a century points to a sharp decline in the number of fish returning each year to river in British Columbia, CBC reports.
Adelaide University has suspended the head of an ancient DNA lab as its investigation of workplace bullying continues, Australia's ABC News reports.
In PNAS this week: gene expression profiles of adipocyte subtypes, computational approach for improving plant expressome analysis, and more.