Clinical OMICS

MAY-JUN 2017

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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Page 40 of 47 May/June 2017 Clinical OMICs 39 Comprehensive Carrier Screening Research Assay Thermo Fisher Scientific announces the new CarrierScan™. The assay is the first com- prehensive, pan-ethnic research solution that enables laboratories to assess genomic variation associated with more than 600 genes involved in inherited diseases, such as cystic fibrosis and thalassemia. In all, it is designed to detect more than 6,000 mutations, including bi-allelic and multi-allelic single nucleotide variants (SNVs), in-dels, and copy number variations (CNVs) in challenging regions such as highly orthologous genes and pseudogenes. The content included in CarrierScan Assay is based upon empirical selec- tion of probes and biological verification of the most common variants. This design and verification process enables reproducibility and confidence in results of broad screening research. Thermo Fisher Scientific New Products RNA-Seq Kits for High-Sensitivity Transcriptomics NuGEN Technologies introduces the Universal Plus mRNA-Seq and the Trio RNA-Seq kits that enable RNA-Seq analyses from routine samples from sources like cfRNA and FFPE. Universal Plus mRNA-Seq has the option to eliminate unwanted transcripts after library construction using AnyDeplete technology to detect low expressed genes, and has a broad dynamic input range from 1 mg to as low as 10 ng. Trio RNA-Seq is suited for applications with low abundance transcripts, such as detection of viral transcripts or biomarker assessment in liquid biopsy samples. The product incorporates the Single Primer Isothermal Amplification (SPIA) technology to amplify nucleic acids without the bias seen with PCR amplification; DimerFree technology for library prep; and AnyDeplete technology, which enables the removal of unwanted transcripts after library preparation. NuGEN Technologies Targeted RNA Expression Profiling Assay The new Driver-Map™ Human Genome-Wide Gene Expres- sion Profiling kit, is a targeted RNA expression profiling assay designed to easily pro- vide a molecular snapshot of all known 19,000 human protein-coding genes from complex samples starting from as little as 10 pg of total RNA. The multiplex RT-PCR-based, followed by next-generation sequencing (NGS) method used in the kit allows researchers access to the specially designed and experimentally validated gene-specific primer pairs to run samples in their own laboratories. The assay includes selective amplification of 19,000 annotated human tran- scripts using RT-PCR; experimentally validated GCA-rich primers to specifically measures mRNAs without background from other RNAs; and built-in, internal ERCC control RNAs to compensate for batch effects and other technical varia- tion. Cellecta Adaptive Immune System Analysis at Single-Cell Resolution The new Chromium™ Single Cell V(D)J Solu- tion allows the profiling of paired V(D)J transcripts from hundreds to millions of lym- phocytes. The solution is optimized for the assembly of full V(D)J sequences—5' untrans- lated region (UTR) to constant regions—from short-read sequencing on a cell-by-cell basis. Five-prime barcoding limits bias caused by complex multiplex PCR, enables the detection of germline and somatic variants across the entire V(D)J segment and supports cell-type classification or phenotyping. It includes nec- essary chemistry and microfluidics consum- ables as well as a complete software suite for analysis and visualization of large V(D)J data- sets. Cell Ranger™ pipeline uses barcoding for gene expression analysis with single-cell res- olution at million-cell scale. Loupe™ for Cells visualization application provides easy-to-use clustering and differential expression analysis. 10x Genomics

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