Skip to main content
Premium Trial:

Request an Annual Quote

And the World Record Goes To…

With a time of 26 hours, Rady Children's Hospital's Stephen Kingsmore is being included in the Guinness World Records for having performed the fastest genetic diagnosis

Kingsmore and his colleagues described their whole-genome sequencing-based approach for diagnosing critically ill patients last fall in Genome Medicine. As GenomeWeb reported at the time, the researchers refined their STAT-seq approach to improve its sensitivity, turnaround time, and scalability, in part by relying on the Edico Genome Dragen pipeline and on modifications to the Illumina HiSeq 2500 platform, such as faster sequencing cycles.

Based on these tweaks, Kingsmore, then at Children's Mercy Hospital in Kansas City, and his colleagues pared down the time to results from 50 hours to 26 hours.

"Diagnosing acutely ill babies is a race against the clock, which is why it's so essential for physicians to have access to technology that will provide answers faster and help set the course of treatment," Kingsmore says in a statement.

It's also a race to get into the record book.

The Scan

Tara Pacific Expedition Project Team Finds High Diversity Within Coral Reef Microbiome

In papers appearing in Nature Communications and elsewhere, the team reports on findings from the two-year excursion examining coral reefs.

Study Examines Relationship Between Cellular Metabolism, DNA Damage Repair

A new study in Molecular Systems Biology finds that an antioxidant enzyme shifts from mitochondria to the nucleus as part of the DNA damage response.

Stem Cell Systems Target Metastatic Melanoma in Mouse Model

Researchers in Science Translational Medicine describe a pair of stem cell systems aimed at boosting immune responses against metastatic melanoma in the brain.

Open Pediatric Brain Tumor Atlas Team Introduces Genomic Data Collection, Analytical Tools

A study in Cell Genomics outlines open-source methods being used to analyze and translate whole-genome, exome, and RNA sequence data from the Pediatric Brain Tumor Atlas.