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The Far Journey

Researchers working on the human genome sequence probably could not "have predicted we would be as far along as we are now. But that doesn't mean there's not a lot further to go on this journey," National Human Genome Research Institute Director Eric Green tells the Washington Examiner. Genome sequencing no longer costs $1 billion — it can be done for less than $10,000, Green says. "People are using genomics for many things — from agriculture to ancestry to medicine. ... As one example, we very much think genomics will be used to understand the molecular basis of cancer, including its diagnosis and eventually its treatment," Green adds.

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.