In a clinical study Baylor researchers found that PreSeek, which Natera markets as Vistara, reliably detected dominant disorders in more than 400 pregnancies.
At the PAG conference, researchers said they are sequencing 100 tomato genomes in 100 days using Oxford Nanopore's PromethIon and a pipeline for maximizing SV diversity.
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.
A new study finds that the majority of patients at a Tijuana clinic received a diagnosis after first-line genome sequencing, the San Diego Union-Tribune reports.
In Genome Biology this week: post-transcriptional modification-based stratification of glioblastoma, single-cell analysis of gene expression and methylation in human iPSCs, and more.
