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Element Biosciences Aviti 150-Cycle Sequencing Kit

Element Biosciences has launched the Aviti 150-cycle sequencing kit for short-read applications including bulk and single-cell RNA-seq. The kit works for both single-end sequencing and 2x75 bp paired-end sequencing.

The kit costs $1,080, or less than $1 per million reads.

LetsGetChecked MyPGx

LetsGetChecked has launched its MyPGx pharmacogenomic testing panel, which identifies potential drug-gene interactions for more than 100 drugs across a variety of diseases, including behavioral health, cardiovascular health, and pain management. The test panel will initially be available to health plans, enterprises, providers, and the public sector and processed in LetsGetChecked's CLIA approved and College of American Pathologists-accredited laboratories. Data and reporting information for the test will be fully integrated into the company's ecosystem, which includes lab analysis, clinician support, and prescription fulfillment. 

Pacific Biosciences: Tandem Repeat Genotyping Tool

Pacific Biosciences has launched a new computational analysis method for profiling tandem repeats.

The tandem repeat genotyping tool (TRGT) provides full characterization of tandem repeats genome-wide, including composition, structure, repeat unit length, and CpG methylation for each repeat allele and flanking sequence. It can also identify sequence changes that are potentially associated with pathogenic expansions in diseases such as cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.

TRGT comes with a companion tool, TRVZ, to visualize read pileups and methylation data for each repeat allele and flanking sequence.

TRGT and TRVZ are available via GitHub.

Integrated DNA Technologies PrimeTime 1-Step 4X Broad-Range qPCR Master Mix

Integrated DNA Technologies has launched its PrimeTime 1-Step 4X Broad-Range qPCR Master Mix, intended for viral research and other gene expression applications. The inhibitor-resistant master mix includes an enzyme exclusive to this mix and enables direct amplification of nasopharyngeal and saliva specimens tested directly out of viral transport media. Testing on other sample types is ongoing, the firm said. The kit also includes an enhancer solution that acts to neutralize PCR inhibitor effects during a reaction.

Saphetor VarSome 11.4

Saphetor has released version 11.4 of its VarSome genome interpretation and annotation software. The update includes a points-based score for American College of Medical Genetics and Genomics (ACMG) classification, calibration of in silico scores according to ClinGen guidelines, and the ability to view matched annotation from NCBI and EMBL-EBI (MANE) Select and MANE Plus scores in ACMG classification. The new features are currently only available in the basic VarSome and the paid VarSome Clinical versions of the software; the company is waiting for feedback on the points-based system for the ACMG classifier before updating VarSome Clinical. 

Dolomite Bio Nadia Go

Dolomite Bio has launched Nadia Go, a compact microfluidic system for custom microfluidic and genomics research. The company said Nadia Go has a small footprint; has no tubing or polydimethylsiloxane; features single-use chips; and has a semi-automated setup. The new instrument allows users to control parameters such as droplet size, droplet frequency, temperature, agitation, and timing through PC software. Researchers can also observe droplet formation in real-time with Nadia Go's high-speed microscope and camera.

Allelica Ancestry-Specific Polygenic Risk Score Tests for Common Diseases

Allelica now offers ancestry-specific polygenic risk score (PRS) analysis for coronary artery disease, breast cancer, prostate cancer, type 2 diabetes, and Alzheimer's disease as lab-developed tests in partnership with Clinical Enterprise, a CLIA-certified, CAP-accredited laboratory located in Framingham, Massachusetts. These can be ordered as standalone single-PRS tests or as panels with multiple PRSs. Allelica plans to include more diseases across cardiology, oncology, and women's health in future offerings. DNA from patient saliva forms the input for a microarray genotyping analysis carried out by Clinical Enterprise. The output of that analysis feeds into Allelica's platform, which calculates ancestry-specific PRSs and generates clinical-grade reports via proprietary algorithms. Reports are also available as a white-label package, delivered to providers through a secure portal or through integration with electronic medical records.

BioBam OmicsBox 2.2

BioBam has released version 2.2 of its OmicsBox cloud-based modular data analysis platform. This latest release incorporates new features for single-cell and long-read data analysis to support genomics and transcriptomics research. Notably, OmicsBox 2.2 provides gene expression and trajectory analysis for functional interpretation of single-cell data, the company said.

Vizgen Merscope Protein Codetection Kit

Spatial genomics firm Vizgen has launched the Merscope Protein Codetection Kit, enabling simultaneous detection of RNA and protein. The kit uses oligo-conjugated antibodies to detect primary antibodies targeting proteins, and contains all necessary reagents to co-detect up to five proteins with a single MERFISH experiment, the company said.

Codex DNA BioXp 9600 System

Codex DNA has commercially released the BioXp 9600 system, a fully automated benchtop synthetic biology platform. Codex DNA said the BioXp system enables overnight, automated synthesis of genes, clones, DNA libraries, and mRNA. Beginning in Q1 of 2023, the company will also release additional BioXp kits that allow researchers to clone, amplify, and synthesize mRNA from their own linear DNA or plasmid DNA.

The Scan

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.

Fragile X Syndrome Mutations Found With Comprehensive Testing Method

Researchers in Clinical Chemistry found fragile X syndrome expansions and other FMR1 mutations with ties to the intellectual disability condition using a long-range PCR and long-read sequencing approach.

Team Presents Strategy for Speedy Species Detection in Metagenomic Sequence Data

A computational approach presented in PLOS Computational Biology produced fewer false-positive species identifications in simulated and authentic metagenomic sequences.

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.