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An App for Your Genome

An article in the UK’s Times Online looks into the personal genetic testing business, saying that a lot of the promise it held a year and a half ago has been “postponed.” “The fledgeling industry’s struggles to take wing have brought comparisons with the dot-com bubble of a decade ago,” the article begins and then delves into the various approaches the different companies are taking. In it (as well as on his own blog), Daniel MacArthur says that the big market for these companies might be further down the road when their data interpretation skills become in demand. Also, Dan Vorhaus from Genomics Law Report envisions an IPhone-like future. “It’ll be rather like iPhone apps, where you subscribe to services that slice and dice your data in different ways,” he says. “A company like 23andMe does a really good job of making genomic information really accessible and understandable for consumers. You’ll take your genome to them and they’ll add the apps that make it talk.”

The Scan

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.

Fragile X Syndrome Mutations Found With Comprehensive Testing Method

Researchers in Clinical Chemistry found fragile X syndrome expansions and other FMR1 mutations with ties to the intellectual disability condition using a long-range PCR and long-read sequencing approach.

Team Presents Strategy for Speedy Species Detection in Metagenomic Sequence Data

A computational approach presented in PLOS Computational Biology produced fewer false-positive species identifications in simulated and authentic metagenomic sequences.

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.