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SoftGenetics GeneMarker HTS Software

SoftGenetics has launched GeneMarker HTS software for analysis of the mitochondrial genome in both forensic and clinical research applications. The software provides a streamlined workflow for forensic and medical research mitochondrial NDa data analysis from next-generation sequencing systems such as the Illumina and Ion Torrent platforms. It aligns data to a reference, and optimizes detection of INDELS and discovering variants, including SNPs, INDELS, and heteroplasmy. The software also includes quick export to EMPOP, user management, audit trail capabilities, synchronized comparison of multiple samples, customizable viewing, and reporting to protect health information.

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.