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.
A federal judge has ruled that drug companies, device manufacturers, and universities need to provide missing clinical data from hundreds of trials to a federal website, ScienceInsider reports.
A genetic analysis suggests red pandas might actually belong to two different species, New Scientist reports.
NPR reports that the US Centers for Disease Control and Prevention has fixed the problem with some of its SARS-CoV-2 testing kits.
In Nature this week: epigenetic factors that prevent healthy aging and more.