NEW YORK (GenomeWeb) – Researchers at Children's Mercy in Kansas City have assessed the clinical utility and cost-effectiveness of exome and genome sequencing for diagnosis in a retrospective study of 119 children with neurodevelopmental disorders.

Based on their results, they suggested that trio exome and genome sequencing should be used early in the diagnostic process, rather than as a last resort, and that fast genome sequencing should be used in urgent cases.

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Cancer researcher Alan Rabson has died at 92, the New York Times reports.

As the National Guideline Clearinghouse goes dark, the ECRI Institute says it will pick up the slack.

In Genome Research this week: sequencing method examines proteins parasite uses to evade immune system, L1 insertions in cancer, and more.

The Atlantic reports on private Facebook support groups for people who receive unexpected parentage results from direct-to-consumer genetic tests.

Jul
19
Sponsored by
Thermo Fisher Scientific

This webinar will discuss how ultra-highly sensitive and customizable targeted next-generation sequencing panels are applied in inherited disease research. 

Jul
24
Sponsored by
Qiagen

In this webinar, Dr. Fergus Couch from the Mayo Clinic will present data from a large study that used a targeted sequencing panel to determine pancreatic cancer risk associated with inherited mutations in several cancer predisposition genes.

Aug
07
Sponsored by
Qiagen

This webinar will present the results of an evaluation of a web-based variant interpretation software system for clinical next-generation sequencing.

Aug
09
Sponsored by
Agena Bioscience

In this two-part webinar, Dr. Elin Gray, from Edith Cowan University, and Ms. Weiwei Zhao, from Kingmed diagnostic, will compare the highly sensitive, multiplexed UltraSEEK technology, on the MassARRAY system, to digital droplet PCR (ddPCR) results on melanoma and non-small cell lung carcinoma samples.