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New Products Posted to GenomeWeb: Thermo Fisher, CDI Labs, CeGaT, More

Thermo Fisher Scientific Ion Torrent CarrierSeq ECS Kit

Thermo Fisher Scientific has introduced the Ion Torrent CarrierSeq ECS Kit for expanded carrier screening. The AmpliSeq-based panel, which runs on the Ion GeneStudio S5 sequencer, covers 420 genes, including difficult-to-sequence ones like SMN1 and SMN2 for spinal muscular atrophy, GBA for Gaucher disease, CYP21A2 for 21-hydroxylase deficient congenital adrenal hyperplasia, and HBA1 and HBA2 for alpha thalassemia. It detects more than 28,000 non-benign ClinVar variants, including single nucleotide variants and copy number variants, and comes with customizable Carrier Reporter software.


CDI Labs HuScan and VirScan

CDI Laboratories' Antygen Division, which provides contract research for R&D in the therapeutic and diagnostic space, has launched two biomarker discovery assays, HuScan and VirScan. HuScan detects antibodies against the entire human proteome via long peptides on the surface of bacteriophages, antibody pulldown, and sequencing readouts. VirScan detect antibodies against the proteomes of every viral strain known to infect humans in the same manner. Both assays represent the first commercial use of PhIP-seq technology, the company said.


CeGaT Exome Xtra

CeGaT has launched the CeGaT Exome Xtra test, which the firm says increases the diagnostic yield compared to a standard exome test. Besides coding sequences, it includes all medically relevant regions throughout the genome, such as pathogenic and likely pathogenic intronic variants, disease-associated transcripts, cryptic exons, as well as the mitochondrial genome. In addition, the data analysis considers variants in genes with reduced penetrance, variable expressivity, imprinting effects, and SNV/CNV combinations.


For more new products and services, please visit the New Products page on our website.

The Scan

Enzyme Involved in Lipid Metabolism Linked to Mutational Signatures

In Nature Genetics, a Wellcome Sanger Institute-led team found that APOBEC1 may contribute to the development of the SBS2 and SBS13 mutational signatures in the small intestine.

Family Genetic Risk Score Linked to Diagnostic Trajectory in Psychiatric Disorders

Researchers in JAMA Psychiatry find ties between high or low family genetic risk scores and diagnostic stability or change in four major psychiatric disorders over time.

Study Questions Existence of Fetal Microbiome

A study appearing in Nature this week suggests that the reported fetal microbiome might be the result of sample contamination.

Fruit Fly Study Explores Gut Microbiome Effects on Circadian Rhythm

With gut microbiome and gene expression experiments, researchers in PNAS see signs that the microbiome contributes to circadian rhythm synchronicity and stability in fruit flies.