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structural variation analysis

An exome- and expression-based analysis of 304 DLBCL cases led to five molecular subtypes, offering insights into disease pathogenesis and treatment outcomes.

Researchers found that children with autism are more likely to inherit cis-regulatory structural variants from their fathers than their unaffected siblings.

In Genome Biology this week: approach to analyze alternative polyadenylation, algorithm to predict transcriptomic structural variations, and more.

Complex SVs played a role in four of 1,300 Mendelian disease cases analyzed, of which nanopore sequencing helped to resolve one.

In Genome Biology this week: transcription factor use among brittle stars, single-cell RNA sequencing strategy, and more.

The Fix-C method is a modified version of Hi-C and makes use of the fact that the structural information relevant in cancer is preserved in FFPE samples.

With its Direct Labeling and Staining (DLS) chemistry, currently available to early-access users, Bionano is pushing forward with more contiguous genome maps.

As long-read sequencing and genome mapping technologies improve, researchers have begun using them in the clinic to identify once undetectable structural variants. 

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.

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Certain plasma proteins could be used to gauge a person's age and whether they are aging well, according to HealthDay News.

GenomeWeb reports that Veritas Genetics is suspending its US operations.

A Brazilian-led team of researchers reports it has generated a sugarcane genome assembly that encompasses more than 99 percent of its genome.

In Science this week: approach to measure microRNA targeting efficiency, strategy to conduct high-throughput chemical screens at single-cell resolution, and more.