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QCI Interpret Translational whole-exome sequencing workflow

QIAGEN
31 Mar 2024

Whole-exome sequencing (WES) aids in identifying novel gene-disease associations and addressing phenotypic variability by uncovering the genetic basis of multiple diagnoses in a single patient. Despite significant contributions from other genetic analysis methods, such as genome-wide association studies and candidate gene mutation screening, a substantial portion of hereditary cancer cases still lack a known genetic mechanism. In this application note, QIAGEN presents QCI Interpret Translational, a comprehensive software solution, which streamlines variant annotation, filtering, and prioritization processes, enabling researchers to identify clinically relevant variants accurately and efficiently.

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QCI Interpret Translational

QIAGEN

QCI Interpret Translational is a NGS variant assessment software solution that enables rapid, evidence-powered variant annotation, filtering, and triage for human exome, genome, and large cohort sequencing data. Leveraging the QIAGEN Knowledge Base, QCI Interpret Translational improves research efficiency and accuracy by automating manual curation processes, dynamically and transparently assessing variants according to society guidelines with full user-control, allowing users to focus on what matters most: transforming genomic data into publishable insights.

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Genome AnalysisGenomics, the study of genomes, includes functional genomics, evolutionary genomics and comparative genomics. There are many genomic technologies such as DNA sequencing of whole genomes, computational biology and bioinformatics. DNA and nucleic acids must be isolated and concentrated from cells for analysis with kits, automated analyzers and software. Other useful technologies for studying genomics include PCR, microarrays and electrophoresis.Data AnalysisData analysis hardware and software is available to make data processing straight-forward yet powerful. Data software can be used for math and stats, technical graphing and image analysis. In addition, software is available for specific data analysis of electrophoresis, densitometry, ELISA and DNA sequencing.Chem / BioinformaticsCheminformatics and bioinformatics are computational techniques used in chemistry and biology, respectively, for data acquisition, processing and storage. Cheminformatics focuses on compound information, whereas bioinformatics is mainly applied to analysis and modeling of genomics, genetic and sequencing information. Hardware and software is available for data acquisition, analysis, management and storage.DNA SequencingDNA sequencing, such as sanger sequencing, is a biological technique that determines the precise order of nucleotide bases in a fragment or template of DNA. DNA sequencers and genetic analyzers are based on capillary electrophoresis, where labeled DNA fragments are electrophoretically separated by size as they migrate through a polymer. Find the best DNA sequencing products, including DNA sequencing kits, genomic libraries and genetic identity kits in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Next Generation SequencingNext-generation sequencing (NGS), also known as whole-genome sequencing, high-throughput sequencing and massive parallel sequencing, produces and analyses thousands to millions of nucleotide sequences at once. Sequencing systems operate via varying technologies depending on the manufacturer, including sequencing by synthesis, ligation, pyrosequencing, ion semiconductor and single-molecule real-time sequencing. For NGS, library preparation is paramount to successful sequencing. In this section, explore a range of library preparation kits, from targeted, amplicon-based or hybridization-based kits including epigenomic, transcriptomic and genomic workflows to fragmentation kits. Find the best next-generation sequencing products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.SequencingSequencing refers to determining the order of nucleotides in a DNA or RNA molecule. This process is essential in genomics, diagnostics, and evolutionary biology. Techniques like next-generation sequencing (NGS) and Sanger sequencing provide high-throughput and precise data for analyzing genomes and transcriptomes. Browse our peer-reviewed product directory to find the best sequencing tools and reagents, compare products, check reviews, and get pricing directly from manufacturers.Genome SequencingGenome sequencing involves determining the complete DNA sequence of an organism's genome. It provides crucial information about genetic variations, mutations, and diseases. Advances in sequencing technologies, such as next-generation sequencing (NGS), have accelerated research in genomics, diagnostics, and personalized medicine. Explore genome sequencing tools in our peer-reviewed product directory; compare products, check reviews, and get pricing directly from manufacturers.ExomesSNP GenotypingCancer ResearchAlthough cancer is often referred to as a single condition, it actually consists of more than 100 different diseases. Microscopy, mass spectrometry, high throughput sequencing and flow cytometry are some of the most common techniques employed in cancer research labs.

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QCI Interpret Translational whole-exome sequencing workflow