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Illumina Dragen v4.2

Illumina has launched the latest version of its Dragen software for next-generation sequencing data analysis. Dragen v4.2 offers improved machine learning algorithms for variant calling; a new high-sensitivity mode for the SNV caller to detect mosaic variants; an expanded multigenome graph with 32 samples from around the world; accuracy improvements for copy number variants smaller than 10 kb; support for the telomere-to-telomere CHM13v.20 reference; and new targeted callers for LP, LPA, HBA, CYP21A2, and RH. 

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.