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.
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.
