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structural variation analysis

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.

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. 

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A man has confessed to the rape and murder of developmental biologist Suzanne Eaton, according to the New York Times.

The Irish Times reports that US lawmakers and law enforcement agencies are concerned about ties between the US and Chinese genomics firms.

Parents of children with spinal muscular atrophy tell the Washington Post they are pushing to get insurance coverage of Novartis's Zolgensma.

In PNAS this week: gene mutations in individuals with syndromic craniosynostosis, putative colorectal cancer drivers, and more.