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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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Researchers tie a variant in ADAMTS3 to breathing difficulties in dissimilar dog breeds, according to Discover's D-brief blog.

The Japan Times reports that researchers sequenced the genome of a woman who lived during the Jomon period.

Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.

In Science this week: single-nucleus RNA sequencing of brain tissue from individuals with autism, and more.