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Poster Icon   Scientific Poster
Genomic and Biochemical Profile of Pseudodeficiency in Lysosomal Storage Disorders
This study is shows a correlation between genomic variants, enzyme activities and biomarkers can help to more accurately rule out false-positive cases caused by pseudodeficiency, especially in the newborn screening setting.
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Genetically engineered PDX models as patient avatars in preclinical evaluation of acute leukemias
Identifying therapeutic targets using gene silencing techniques in PDX models
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Fast Forward –is Multiomics a resurgence of old?
This poster shed lights on the correlation between biochemical results and molecular findings, as well as genotype-phenotype relationship in Pompe, Gaucher and Fabry diseases. Hightlights usage multiomics in improving diagnostic performances and personalized treatment, but it’s required datasets from multiple measurements, large reference databases for different genes and diseases, integrated analysis methods and strong computational infrastructure.
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Multiplexed Measurement of Enzyme Activities Associated with Seven Lysosomal Storage Disorders from a Dried Blood Spot via LC-MS/MS
An assay has been successfully developed that allows for the direct measurement of the activity of seven lysosomal enzymes from DBS for patients age 0-20 y. This assay is used as a primary screening tool.
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Utilizing Advanced Genomic Technologies to Identify Dual Diagnoses
The ability of whole genome sequencing and the whole exome sequencing helps in Nuclear and mito genome detection, SNV and CNV detection and multiple diagnoses
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Extending and Adapting the Functions of Genetic Laboratories During the COVID-19 Pandemic- Challenges and Successes
Given the current global awareness of respiratory virus activity and spread, there is a growing demand for new and expanded testing. This poster explains the need to explore the new tests to pivot between COVID test and Rare disorders with innvoation
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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.
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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.
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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.
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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
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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.
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Efficiency of Genome Sequencing in Establishing Molecular Diagnosis in Undiagnosed Patients
Recommedation of GS as the comprehensive test to identify SNVs and CNVs in coding / non-coding regions to establish molecular diagnosis. Emphasis the importance of detailed clinical information to provide better analysis of genomic data.
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