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In Sickle Cell Project, Baylor Scientist Discovers Link to Fetal Hemoglobin Production with Ingenuity Variant Analysis from QIAGEN

Ingenuity Systems Inc.
27 Oct 2014

Just two decades ago, there were virtually no therapeutic treatments for patients with sickle cell anemia, a severe condition in which blood cells form rigid sickle shapes, damaging several organs in the body. Today, there’s not only a medication, but thanks to new research from Vivien Sheehan and data interpretation from QIAGEN’s Ingenuity Variant Analysis, scientists also have a promising new lead for another treatment option.

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Variant Analysis

Ingenuity Systems Inc.

Identify causal variants from human sequencing data in just hours Rapidly Identify and Prioritize Variants Ingenuity Variant Analysis combines analytical tools and integrated content to help you rapidly identify and prioritize variants by drilling down to a small, targeted subset of compelling variants based both upon published biological evidence and your own knowledge of disease biology. Biological Interpretation of your Variant Data With Variant Analysis, you can interrogate your variants from multiple biological perspectives, explore different biological hypotheses, and identify the most promising variants for follow-up.

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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.Point-of-CarePoint-of-Care Testing (POCT) or Near Patient Testing (NPT) products are available for urine, blood and other clinical chemistry analyses. POCT includes: blood glucose testing, blood gas and electrolytes analysis, rapid coagulation testing (PT / INR), rapid cardiac markers diagnostics, drugs of abuse screening, urine strips testing, pregnancy testing, fecal occult blood analysis, food pathogens screening, hemoglobin diagnostics, infectious disease testing and cholesterol screening.BiomarkersBiomarkers are biological markers which can be measured and evaluated to indicate a biological state. The use of biomarkers in research and diagnosis can indicate a normal or disease state or drug response of cells / tissues. Biomarkers include genetic markers, cell surface markers such as antigens, antibodies or receptors and secreted molecules such as cytokines. An assay system is required for identification of biomarkers. :Software PlatformsSoftware platforms are useful for various stages of laboratory experiments from data collection to data storage and processing. For instance lab software is available for system control, data management, data analysis and qualification / validation.Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.Hematology Point of CareGenetic Variation

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