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Application Note Icon   Application Note
NEXTFLEX Rapid 2.0 DNA-Seq App Note
NEXTFLEX Rapid DNA-seq kit 2.0: DNA library preparation that improves sequencing performance.
Application Note Icon   Application Note
Embryo Identification, tracking and contamination monitoring using Mitochondrial SNVs.
Embryo Identification, tracking and contamination monitoring using Mitochondrial SNVs.
Flyer Icon   Flyer
Transition guide to PG-Seq v3.0
Transition guide to PG-Seq v3.0
Technical Note Icon   Technical Note
PG-Seq Rapid kit v2 Assessment Summary
PG-Seq_Rapid_kit_v2_Assessment_Summary
Other Icon   Other
Whole genome sequencing is a powerful “one-stop shop” screening assay for uncovering undiagnosed conditions in apparently healthy pediatric cohort
This abstract indicates that WGS screening can serve as a “one-stop shop” for uncovering a wide range of looming genetic conditions in apparently healthy children, this way enabling the family and treating clinicians to take timely appropriate actions to maximize their healthcare outcomes and inform future reproductive decisions.
Poster Icon   Scientific Poster
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.
Poster Icon   Scientific Poster
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.
Poster Icon   Scientific Poster
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
Poster Icon   Scientific Poster
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.
Product Info Icon   Product Info
SampleSheet Generation for PGSeq Rapid v2_12NT Instructions
These instructions describe the process to prepare Illumina sample sheets for sequencing with the 12NT PG-seq primers.
Poster Icon   Scientific Poster
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
Poster Icon   Scientific Poster
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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