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A Shiny Toy

Dec 09, 2010

The speed and price of the Ion Torrent machine could bring sequencing into the reach of even more researchers, says this article at Technology Review. "It takes the democratization of sequencing to the next level," the Broad's Chad Nusbaum tells Tech Review. "Virtually anyone with good grant funding can buy one." The article notes that though the machines are cheap — $50,000 — the disposable chips that it uses cost $250 and can only be used once, which drives up sequencing costs. George Church adds that while the price tag makes it more feasible for researchers to buy their own sequencing machines, it's not certain that they will. At our sister publication In Sequence, Julia Karow goes into more detail on the machine's technical specs and early feedback from beta users.

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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.