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structural variation analysis

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.

Heterozygous deletions at the chromosome 22q11.2 locus contribute to kidney problems in individuals with DiGeorge syndrome or congenital urogenital conditions.

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The New York Times looks at companies using genomic tools to try to quickly identify the cause of patients' infections.

The White House has asked for $2.5 billion in funding to address the COVID-19 outbreak, according to the Associated Press.

A resignation at the Marine Biological Laboratory highlights that institutions are unsure of how to handle researchers previously found to have violated codes of conduct, Nature News says.

In PNAS this week: immune responses that affect heart transplant rejection risk, gene variants associated with thiopurine toxicity, and more.