Heterozygous deletions at the chromosome 22q11.2 locus contribute to kidney problems in individuals with DiGeorge syndrome or congenital urogenital conditions.
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.
A new report offers ways for small, society publishers to transition to Plan S standards, ScienceInsider says.
A gas explosion sparked a fire at a Russian laboratory that stores dangerous pathogens, the Guardian reports.
Researchers turn to protein analysis to examine an ancient rhino sample, Smithsonian.com reports.
In PNAS this week: C2CD4A gene involved in insulin secretion, chromosome rearrangements in recurring S. aureus infections, and more.