mutation detection

With targeted, exome, and whole-genome sequencing data, investigators saw recurrent driver mutations and heterogeneous mutational signatures in seemingly normal bladders.

Genomic and epigenomic data suggest it may be possible to target an FGFR fusion found in open chromatin in a subset of adenosquamous carcinoma of the pancreas tumors.

Analyzing genome sequences from dozens of cases and controls, researchers saw an IBD-associated jump in somatic mutations in colonic crypt samples.

Researchers analyzed evolutionarily constrained non-coding mutations in genome sequences from dozens of glioblastoma patients, identifying regulation-related changes.

Single-cell RNA sequencing uncovered interactions between colorectal cancer alterations and corresponding immune cell and stromal features.

Agilent, which co-led Mission Bio's 2018 $30 million Series B financing round, will comarket the Tapestri platform to cancer researchers in North America.

A new paper outlines an upcoming effort to trace tumor development and trajectory in time and space using single-cell genetics and other genomic methods.

The study suggests that pediatric low-grade gliomas driven by genetic rearrangements tend to be diagnosed earlier and have better outcomes than those driven by SNVs.

Genes influencing NOTCH pathway activity were linked to head and neck squamous cell carcinoma with a mouse screen centered on genes with long tail mutations in human cases.

Members of a large, international consortium tapped into whole-genome sequences from nearly 2,700 tumors to explore coding and non-coding variants contributing to cancer.