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Yourgene Flex Analysis Software

Yourgene of Manchester, UK, has launched the Yourgene Flex Analysis Software to support the company's plans to develop next-generation sequencing-based in vitro diagnostic products with partners and research collaborators in industry. The software platform builds on the company's Iona software and will also be deployed internally to support Yourgene's internal product development pipeline in reproductive health and oncology. Its components allow for sequence data to be read, filtered, and analyzed, and to generate bespoke clinical test reports. All elements of the software are developed to standard ISO/IEC 62304, which supports in vitro diagnostic regulatory submissions.

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.