Researchers reported that structural variants also tend to have larger effect sizes than single-nucleotide variants or insertions and deletions.
One team examined single-nucleotide variation, indels, and copy-number variations in ASD, while the other focused on large structural variations.
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 Chan Zuckerberg Initiative is investing in Cold Spring Harbor Laboratory's BioRxiv.
A study appearing in PLOS One finds that shortened consent forms don't affect clinical trial participants' understanding of the study.
The National Security Agency monitored signal intelligence for signs of "nefarious" genetic engineering projects, Gizmodo reports.
In Nature this week: barley genome sequenced, method for genotyping and phasing short tandem repeats, and more.