Clinical Sequencing | GenomeWeb

Clinical Sequencing

During an FDA-sponsored workshop last week, participants discussed ideas for a regulatory framework that can evolve with rapidly advancing technology.

Researchers have shown that metagenomic sequencing on the MinIon can identify the pathogen and antimicrobial resistance profile of UTIs in several hours. 

A team from Radboud University in the Netherlands performed a new detailed and transparent cost analysis for sequencing based on both static costs, and factors that may differ from institution to institution.

The Pharmacogenomics Clinical Annotation Tool interprets variants from sequencing or genotyping tests and generates a report to inform prescribing decisions.

In a proof-of-principle study, researchers showed that plasmid-based spike-in controls could help with quality control in clinical NGS test development. 

Single molecules sequencing with two distinct chemistry steps
Method for detecting single nucleotide polymorphisms
Strategies for high throughput identification and detection of polymorphisms
Detection of target nucleic acid sequences by cyclic exonucleolytic reactions
Resolving genome fractions using polymorphism counts
DNA polymerases

In PNAS this week: mutations linked to nasopharyngeal carcinoma, salivary proteins common among oral squamous cell carcinoma patients, and more.

At Wired, a science journalist discusses her decision not to undergo BRCA testing.

The Japan Times says regulations are needed to oversee human genome-editing research.

In PLOS this week: molecular surveillance of S. Typhi, genome-wide association study of attention in children, and more.