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Low volume, highly sensitive immunoassays for detecting cytokines in animal fluids
Low volume, highly sensitive immunoassays for detecting cytokines in animal fluids

Brightfield and Fluorescent Image Analysis for Screening Applications using the Celigo Adherent Cell Cytometer
Brightfield and Fluorescent Image Analysis for Screening Applications using the Celigo Adherent Cell Cytometer

Cell-mediated cytotoxicity assay by high-throughput direct cell counting in microplates using fluorescence-based image cytometry
Cell-Mediated Cytotoxicity Assay by High-Throughput Direct Cell Counting in Microplates using Fluorescence-Based Image Cytometry

A high-throughput image cytometry-based screening method for the detection of IL2-induced peripheral blood mononuclear cell-mediated cytotoxicity
A high-throughput image cytometry-based screening method for the detection of IL2-induced peripheral blood mononuclear cell-mediated cytotoxicity

Real-time Caspase 3/7 measurement of suspension and adherent cells using the Celigo image cytometer
Real-time Caspase 3/7 measurement of suspension and adherent cells using the Celigo image cytometer

Validating and optimizing single cell sorting of FACS using Celigo image cytometry
Validating and optimizing single cell sorting of FACS using Celigo image cytometry

Development of a Hemolysis Index for Vanadis® cfDNA NIPT Sample Acceptance
Investigating samples that are below 1% hemolysis does not affect the accuracy of Vanadis® cfDNA NIPT results. Either spectrophotometry or a color comparison chart can be used to preferentially remove those samples that are highly hemolyzed from the workflow.

Importance of parental segregation studies and its role in variant classification
This poster highlights importance of parental segregation. Analysis helps to verify the phasing of the causative variants, to verify the de novo occurrences thereby aiding reclassification of the reported variants. Parental analysis post proband testing to better understand complex genetic variations.

Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia, Hereditary Breast and Ovarian cancer syndrome, and Lynch syndrome
This poster highlights the benefits of healthy population screening for the conditions like Familial Hypercholesterolemia, Hereditary Breast and Ovarian cancer syndrome, and Lynch syndrome

Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: findings from the first real-world dataset
This poster concludes that ostensibly healthy babies are at-risk for pediatric onset mendelian condition. Majority of the GS findings are likely to influence healthcare management of babies at risk, and provide valuable information for other family members.

Evidence of Complex Inheritance Patterns in Limb-Girdle and other Muscular Dystrophies: Synergistic Heterozygosity and Multigenic Inheritance
This poster highlighted a high prevalence of patients with pathogenic variants in more than one MD gene suggesting possible multigenic contribution to disease presentation that needs consideration as a part of diagnostic modality. It indicated the importance of further genotype-phenotype correlation studies in other family members to completely understand the complex inheritance mechanism involved in the different muscular dystrophy subtypes

Limb-Girdle Muscular Dystrophy and other Myopathy Patients Diagnostic Yield in Large Cohort of more than 6000 patients
NGS panel study greatly helped to identify LGMD subtypes as well as other myopathies with clinical features overlapping with LGMD subtypes. Increased prevalence was observed for genetically confirmed Oculopharyngeal Muscular Dystrophy (OPMD), VCP related inclusion body myopathy, and other dominant overlapping MDs.


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