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New Products: GeneDx's Dilated Cardiomyopathy Panel; dbSNP Build 137


GeneDx has expanded its Dilated Cardiomyopathy Panel, for which it uses next-gen sequencing to look at genes associated with inherited forms of DCM. The company recently added 11 new genes to the panel, to assess a total of 38 genes. According to the company, the new additions are expected to increase the panel's detection rate by about 20 percent.

The National Center for Biotechnology Information has released dbSNP Build 137 of the human genome, available via ftp, here. Build 137 includes new submissions from the 1000 Genomes Project phase I release and also from the ClinSeq Sequencing Project.

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.