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structural variation analysis

The researchers said that although improvements are needed for accurate basecalling, the MinIon is suitable for structural variant identification and haplotype phasing. 

An analysis of copy number changes and genomic rearrangements in more than 100 tumors suggests chromothripsis may contribute to pancreatic cancer evolution.

Researchers identified some 1.9 million structural variants using whole-genome sequence data from 250 families profiled for the Genome of the Netherlands project.

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.

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According to Gizmodo, researchers have developed a list of a million nucleic acid-like polymers that could store genetic information.

An opinion piece in the Washington Post argues that golden rice could save the sight and lives of many children.

US National Institutes of Health has issued a new draft data-sharing policy, ScienceInsider reports.

In Cell this week: analysis of immune microenvironment in hepatocellular carcinoma, proteogenomic analysis of clear cell renal cell carcinoma, and more.