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structural variation analysis

Researchers at Sharp Healthcare and Invitae uncovered a large deletion in RAD51D, a BRCA-interacting gene previously implicated in ovarian cancer risk.

The partners have committed to analyzing coding mutations, driver non-coding mutations, and structural variations across tumor types for the project.

BioNano plans to develop structural variant assays on its Irys system for diagnostic use in China as a first step in bringing its technology to the clinic. 

The method quantifies structural variations in an allele-specific manner, providing an integrative way to study complex SVs and copy number alterations. 

Three duplications appear to affect HOXB8 expression levels in the facial skin of chickens to give them a bearded look, researchers have found.

Truncations to PD-L1's 3' untranslated region were detected in a variety of tumor types, apparently increasing expression of the gene and decreasing immune response to it.

AstraZeneca'sVarDict was designed to more accurately identify complex tumor mutations in DNA and RNA sequencing data even in samples with low tumor content.

The Broad Institute is running Chromium in its lab, while other early-access users are collaborating with 10X Genomics on single-cell RNA-seq and exome studies.

Spiral has developed graph-based query technology for compressing and querying large genomic cohorts quickly that is currently being piloted at Baylor College of Medicine

The researchers detected a number of known structural variants from cancer cell lines in a background of wild-type sequence, using mixtures of PCR amplicons.

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The Washington Post reports that the CDC's SARS-CoV-2 test issues reflect earlier ones it had with Zika virus testing.

NPR writes that even with thousands of new COVID-19 papers, each should be evaluated based on its own quality.

Researchers traced a gene cluster linked to COVID-19 severity to Neanderthals, the New York Times reports.

In PNAS this week: soil bacteria-derived small molecules affect centrosomal protein, microfluidics approach for capturing circulating tumor cells, and more.