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Invitae Exome Reanalysis

Invitae has begun offering customers of its exome sequencing service routine case-level reanalysis of their results every six months for a minimum of three years. This will ensure that patients' results are up to date based on the latest variant classification research. The reanalysis will be conducted by the company's team of genetics experts, who will utilize an artificial intelligence-powered diagnosis engine that Invitae garnered with the acqusition of Belgian firm Diploid, and a gene-phenotype database.

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.