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Illumina TruSight Software Suite

Illumina has launched the TruSight Software Suite for genetic disease testing using whole-genome sequencing. It enables sample-to-report analysis, allowing users to go from 5 million variants to a small number of candidates in a rapid and scalable way. The software suite, developed in collaboration with the Mayo Clinic and other experts and offered as a "software as a service" solution, promises to reduce test interpretation time from as much as several weeks to as little as a few hours. It is certified for HIPAA compliance, ISO 27001, and ISO 13485 and is built to enable data privacy and compliance with the principles of the European Union's General Data Protection Regulation.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.