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structural variation analysis

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.

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.

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A new analysis finds that nearly half the late-stage clinical trials sponsored by a US National Cancer Institute program influence patient care.

Technology Review reports that sickle cell patients are optimistic about gene editing to treat their disease, but are worried about how available it will be.

The owner of the GEDmatch website tells CBS12 he is considering charging law enforcement a fee to use the site.

In Nature this week: babies born by caesarean section are more likely to have altered gut microbiota profiles, and more.