Using Cancer Genome Atlas data, the researchers identified about 1,100 genes in a range of cancer types whose expression is disrupted by structural variants.
Using exome sequences from individuals with developmental delays, heart defects, and limb abnormalities, investigators identified four TRAF7 mutations.
The approach generates a gRNA against a common genetic element called the flippase recognition target, making genome editing faster and scarless in E. coli.
Baylor College of Medicine's Olga Dudchenko sad the approach could assemble de novo mammalian genomes for less than $1,000.
Researchers detected excess genetic risk and/or misclassification when profiling ClinVar variants in ACMG-59 and OrphaNet genes using genome and exome sequences.
In Cell this week: sequencing to understand medulloblastoma metastases, genome and transcriptome implicates TAP1 in X-linked Dystonia-Parkinsonism, and more.
In Genome Research this week: long-read Caenorhabditis elegans sequences, enhancer patterns in breast cancer cell lines, and more.
A Baylor study compared 25 algorithms in terms of their ability to characterize missense variants and found significant disagreement in their predictions.
In Genome Biology this week: new hot pepper reference genomes, comparison of variant classification algorithms, and more.
CEO Anders Rylander said the company will initially market its DiviTum assay for breast cancer cases, though it could be used to monitor cell proliferation in all cancer types.
Researchers find that historical factors influence which genes are the most highly studied, the Atlantic reports.
The US National Science Foundation's new sexual harassment policy is to go into effect next month, according to Nature News.
Researchers report using genotyping to tie together illegal ivory shipments and trace them back to a handful of cartels, the New York Times reports.
In Nature this week: genomic ancestry analysis of Sardinians, current noncoding mutations in colorectal cancer, and more.