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.
With targeted sequence data on more than 500 cases of the lymphatic fluid accumulation condition, researchers found and explored lymphedema-related ANGPT2 mutations.
Using proteomic, phosphoproteomic, and genomic data, researchers uncovered informative features in primary and metastatic samples from almost 150 CRC cases in China.
Sequencing-based newborn screening could not identify all children with metabolic disorders or hearing loss, but could interrogate a larger number of conditions.
Researchers from MedGenome, Genentech, and multiple international institutions found potentially actionable alterations in more than 200 gallbladder cancer samples.
Exome sequencing and case-control analyses on hundreds of stillborn cases led to more than a dozen apparent risk genes and additional loss-of-function intolerant genes.
Exome sequencing had lower sensitivity and specificity for finding inborn errors of metabolism than conventional screening, but appeared to refine mass spec-based results.
