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structural variation analysis

Using Cancer Genome Atlas data, the researchers identified about 1,100 genes in a range of cancer types whose expression is disrupted by structural variants.

In Cell this week: structural variant profiles for metastatic prostate cancer; approach for visualizing mRNA, lncRNA transcription; and more.

Multi-Omics Factor Analysis looks for underlying causes of tumor variations by parsing and weighting genomic, epigenomic, transcriptomic, proteomic, and metabolomic data.

Researchers validated 95 percent of structural variants called by PacBio sequencing versus 43 percent with Oxford Nanopore, while Illumina missed thousands.

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.

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According to Wired, Nebula Genomics is providing a way for people to get their genomes sequenced anonymously.

NPR says the explosion and fire earlier this week at a Russian lab that stores dangerous pathogens revives the question of whether such samples should be kept.

A 26-year-old woman tells Cosmopolitan about learning her APOE status at a young age.

In Science journals this week: a functional genomic screen uncovers drug combination that increases KRAS inhibitor efficacy in aggressive lung cancer, and more.