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New Products: Agilent's Clinical Research Exome; Qiagen's GeneRead Panels; More


Agilent Technologies has launched its SureSelect Clinical Research Exome, which it developed in collaboration with researchers from Emory University and the Children’s Hospital of Philadelphia. It uses Agilent's SureSelect Human All Exon V5 as the core, but includes 10 percent deeper coverage and enhanced performance in disease-associated regions, including targets identified in OMIM, HGMD, and ClinVar databases. The kit targets around 54 mb of content.

Qiagen has launched 14 GeneRead DNAseq V2 cancer gene panels that encompass 570 clinically relevant cancer genes. The panels are customizable to include other genes or gene regions of clinical or biological interest and are compatible with any NGS sequencer, according to the company. There are three categories of panels: focused panels containing eight to 25 genes, disease-specific panels for 40-50 genes, and comprehensive panels containing as many as 160 genes.

Enzymatics has launched its Archer FusionPlex Sarcoma Panel, which detects and identifies fusions of 26 genes associated with soft tissue cancers. The panel uses Archer's proprietary Anchored Multiplex PCR enrichment technology to identify gene fusions in a single sequencing assay.

Multiplicom has launched its STARGARDT MASTR assay, a next-generation sequencing-based test for Stargardt disease. The assay amplifies the coding regions of the ABCA4, ELOVL4 AND CNGB3 genes. The assay contains 91 amplicons (300 -430 bp) amplified in four multiplex PCR reactions.

The Scan

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.

Mitochondrial Replacement Therapy Embryos Appear Largely Normal in Single-Cell 'Omics Analyses

Embryos produced with spindle transfer-based mitochondrial replacement had delayed demethylation, but typical aneuploidy and transcriptome features in a PLOS Biology study.

Cancer Patients Report Quality of Life Benefits for Immune Checkpoint Inhibitors

Immune checkpoint inhibitor immunotherapy was linked in JAMA Network Open to enhanced quality of life compared to other treatment types in cancer patients.

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.