A British team discovered 14 novel genes associated with developmental disorders in addition to several new disorders linked to known genes.
Investigators uncovered 33 hotspots of large tandem duplications among breast cancer cases that affected cancer susceptibility genes and super-enhancers.
The Cancer Genome Atlas Research Network team uncovered new mutations and amplifications in their cohort of primary cervical cancers.
The researchers said that although improvements are needed for accurate basecalling, the MinIon is suitable for structural variant identification and haplotype phasing.
An analysis of copy number changes and genomic rearrangements in more than 100 tumors suggests chromothripsis may contribute to pancreatic cancer evolution.
Researchers identified some 1.9 million structural variants using whole-genome sequence data from 250 families profiled for the Genome of the Netherlands project.
Researchers at Sharp Healthcare and Invitae uncovered a large deletion in RAD51D, a BRCA-interacting gene previously implicated in ovarian cancer risk.
The partners have committed to analyzing coding mutations, driver non-coding mutations, and structural variations across tumor types for the project.
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.
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.