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structural variation analysis

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.

The 1000 Genomes Project Consortium has shared their results with the scientific community in hopes of gaining insight into disease genomics.

By combining optical mapping with DNA sequencing, University of Wisconsin-Madison researchers examined  structural variation that occurs in multiple myeloma tumors.

By combining structural variants with read depth change data, the software is able to find CNAs in whole-genome sequence that other methods miss.

The researchers used multiple sequencing technologies, library preparations, assembly methods, and genome mapping tools toward creating a reference diploid genome. 

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A federal judge has ruled that drug companies, device manufacturers, and universities need to provide missing clinical data from hundreds of trials to a federal website, ScienceInsider reports.

A genetic analysis suggests red pandas might actually belong to two different species, New Scientist reports.

NPR reports that the US Centers for Disease Control and Prevention has fixed the problem with some of its SARS-CoV-2 testing kits.

In Nature this week: epigenetic factors that prevent healthy aging and more.