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NextGene 2.4.2

SoftGenetics has released NextGene 2.4.2. The release features a new batch CNV tool for screening copy number variants, a unique molecular identifier tool for removing duplicate reads from most commercially available chemistries, and templates for analyzing data from the NEBNext Direct Cancer HotSpot panel and the Direct BRCA panel. The software also offers in-read phasing capabilities, tools for sharing reference tracks with various genome builds, and integrated preloaded references with track manager. The software is integrated with SoftGenetics' Geneticist Assistant NGS Workbench.

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.