Posters and Whitepapers
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CENTOGENE’s Variant Prioritization: Big Data and AI Driving Rare Disease Diagnosis
With big data being a key enabler of any successful artificial intelligence effort, CENTOGENE is ideally suited to employ artificial intelligence (AI) in our diagnostic workflow.
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Application of iPSC Technology in Orphan Drug Development
One of the major challenges in orphan drug development for rare genetic diseases is the lack of predictive high-throughput compound screening systems. While the underlying pathophysiology may be easier to investigate in monogenic diseases, in-vivo animal-based disease models often cannot…
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Confirmation of ACER3-Related Recessive Neurodegeneration
Learn more about our recent findings in confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification.
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Association of Hydrocephalus and Renal Dysplasia
Read more about our recent findings in association of hydrocephalus and renal dysplasia with a homozygous DLG5 frameshit variant in an alternatively spliced exon.
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Novel Clinical and Genetic Insights into Dysfunction of the ASC-1 Complex
The transcriptional coactivator ASC-1 complex is composed of four subunits ASC-1 (TRIP4), ASCC1 (ASCC1), ASCC2 (ASCC2) and ASCC3 (ASCC3). Read more about novel clinical and genetic insights into dysfunction of the ASC-1 complex.
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Comprehensive Carrier Screening
Carrier screening is a genetic test used to determine if a healthy person is a carrier of a recessive genetic disease. The goal of carrier screening is to help individuals understand their risks of having a child with a genetic disorder and review the range of options available to guide pregnancy…
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Validation of Gene Causality for Neurological Disorders
Validation of gene causality for neurological disorders by WES/WGS analyses in a diagnostic setting
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Development of an Evidence-Based Algorithm in WES-Based Diagnostics
Development of an evidence-based algorithm that optimizes sensitivity and specificity in WES-based diagnostics of a clinically heterogeneous patient population. Sensitivity of whole exome sequencing (WES) is not well-defined. We applied very low thresholds in WES-associated variant calling to also…
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Triple Diagnosis Established by Whole Exome Sequencing
Whole exome sequencing (WES) was requested to determine the possible genetic cause of symptoms (table 1, figure 1) for a 37-year-old Lebanese patient. WES performed on Illumina Platform only for the index (Nextera Rapid Capture Exome Kit, ~95% of target bases were covered at ≥10x).
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Lyso-SM-509 Is a Highly Specific and Sensitive Biomarker for the Identification of Niemann-Pick Patients: a 30 Months Study
We present data from a 2 year global cohort of Niemann Pick patients using lyso-SM-509 biomarker determination, followed by sequencing of NPC1/2 genes. Determination of lyso-SM-509 is performed by LC/MRM-MS in plasma, serum, EDTA blood anddried blood spots (DBS). We identified in a world-wide study…
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