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New Products: Ion Torrent 318 Data; Partek's Flow and Pathway Software Packages


Ion Torrent has released new data sets from its 318 chip.

Resequencing of an Escherichia coli strain yielded 1.25 gigabases of AQ20 bases with a consensus accuracy of 99.999 percent. A summary of the sequence run is available here.

The company also released sequence data from two shotgun sequence runs of human cell lines, available here and here. The company constructed the libraries using the Ion Xpress Fragment kit and achieved 97 percent concordance with all SNPs and indels compared to dbSNP release 132.

Partek has released the Partek Flow and Partek Pathway software packages.

Partek Flow is designed for front-end alignment, quality control, RNA quantification, and variant detection of next-gen sequencing data. It can be installed on a desktop, server, cluster, or in the cloud and can be used in conjunction with Partek Genomics Suite or on its own.

Partek Pathway is a software tool for analyzing gene-gene and gene-protein interactions to identify affected pathways, search for specific pathways and genes, and color-code them based on their p-values and fold changes.

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.