BiPday 2014 -- De Molfetta Rita
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The document describes a clinical genomic solution for accurate screening and interpretation of structural genetic variants. It consists of a collaborative workflow between clinicians and laboratories using a portal and bioinformatic pipeline. The portal allows clinicians to enter patient phenotypes and launch genomic tests, while receiving medical reports. The pipeline analyzes copy number variations from microarray data using multiple databases to classify variants and evaluate pathogenicity. This integrated solution aims to simplify the diagnosis process and reduce analysis time.
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BiPday 2014 -- De Molfetta Rita
- 1. Innovation Lab Exprivia S.p.A. A clinical genomic solution
- 2. An experimental solution for accurate screening and interpretation of structural genetic variants A clinical genomic solution 2 Innovation Lab Exprivia S.p.A.
- 3. 3 Motivation PON02_00619_3461281 Valutazione di varianti geniche per lo studio di patologie a trasmissione ereditaria, attraverso l'analisi su larga scala di sequenze genomiche Industrial partner: Exprivia - Scientific partner Casa Sollievo della Sofferenza The progressive cost reduction of the DNA investigation technologies facilitates the acquisition and the employment of genomic data for clinical purposes supporting genome-based diagnosis. A portal to support the collaboration between physician and laboratories through clinical-genomic data exchange, by collecting clinical data (focused on Human Phenotype Ontology); the opportunity to launch and follow the experimental procedure from the committed laboratory; the acquisition of the corresponding medical report. A bioinformatic pipeline for the interpretation of experimental outcomes based on centralized public and local genetic data resources and for the evaluation of clinical role of the genetic alterations and relative pathogenicity. We have tested the prototypes software packages for the interpretation of Copy Number Variantions (CNVs) coming from array Comparative Genomic Hybridization experiments (aCGH). Innovation Lab Exprivia S.p.A.
- 4. 4 Collaborative workflow Innovation Lab Exprivia S.p.A.
- 5. 5 Innovation Lab Exprivia S.p.A. PhenoCLI
- 6. 6 Innovation Lab Exprivia S.p.A. 1 Collection of samples 2 Extraction of total DNA 3 Quantification 4 Hybridise labeled DNA to microarray 5 Scan and analyse microarray 6 Image analysis 7 Data analysis Segmentreport Bioinformatic Analysis Sample Analysis
- 7. 7 Innovation Lab Exprivia S.p.A. GenomeLAB 1 Gene annotation 2 Intersect and coverage with Local database 3 Intersect and coverage with DGV Database 4 Intersect with Decipher database 5 Local classification
- 8. 8 Innovation Lab Exprivia S.p.A. Conclusion From the clinical side: The portal simplifies the data entry process and supports the diagnosis evalutation thanks to the integration of standardized description of the individual phenotype. this resource allows the collection of patients anamnesis, the follow-up and the possibility to contribute to epidemiological studies. From the laboratory side: The pipeline reduces the time of analysis and facilitates the data interpretation. It could be possible to detect novel CNVs: shared CNVs among patients with similar phenotypes could putatively be considered as pathogenic and concur to define new syndromes.
- 9. 9 Innovation Lab Exprivia S.p.A. Future plan
- 10. 10 Innovation Lab Exprivia S.p.A. Credits Innovation Lab, Competence Team Telemedicine & Clinical Genomics, Exprivia S.p.A Pietro Cazzati Rita De Molfetta Renato Greco Luca Lobefaro Francesco Nigro Pietro Noviello Nicola Tempesta Medical Genetics Unit, Casa Sollievo della Sofferenza and Bioinformatic Unit, Casa Sollievo della Sofferenza Massimo Carella Stefano Castellana Tommaso Mazza Orazio Palumbo Pietro Palumbo