Clinical Research Directory

Exome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT

Sponsor: Istituto Giannina Gaslini

Summary

The study involves two centers, only one of which recruits clinical cases. It is funded by the two participating centers according to their respective areas of expertise, in particular through research projects that will make use of sequencing services at IIT, as well as through IGG's institutional research funding and clinical diagnostic budget. The study is therefore a single-center, translational, open-label cohort study. Biological samples from patients and their parents selected to undergo whole-exome sequencing (WES) or whole-genome sequencing (WGS) will be collected and stored within the respective Clinical Units of the Giannina Gaslini Institute, specifically in the DNA Biobank and its associated repositories. Both blood sampling to obtain DNA samples that are not yet available and the use of existing DNA samples will be subject to the informed consent of the individuals concerned. Appropriate DNA aliquots will be sent to IIT for sequencing after the samples have been pseudonymized using specific internal codes assigned by each IGG Clinical Unit. Any excess DNA remaining after completion of the sequencing procedures at IIT will be returned to the Gaslini Institute Biobank. Re-identification of the data associated with samples submitted for advanced genetic testing will only be possible by personnel designated by the heads of the respective Clinical Units who were responsible for sample collection. The same code, once linked to the corresponding Phenotips identifier, will be used to manage clinical and phenotypic data in the database to be established. The genetic data obtained will be stored at the IGG-IIT Joint Genomics Lab in raw format (FASTQ) and made available to the IGG Bioinformatics Unit, which will process them into analysis-ready formats (BAM/CRAM/VCF) and compile the results into a report to be forwarded to the designated contacts in each respective clinical/genetics unit. At these units, the sample code will be decoded to enable communication of any resulting diagnosis to the referring clinicians and the family.

Official title: Sequenziamento Esomico e Genomico di Campioni di DNA, Come Richiesto Sia da Specifici Progetti di Ricerca Che Dalle Necessita' Diagnostiche Dell'Istituto Gaslini, da Effettuarsi Nell'Ambito Del Cosiddetto ''Joint,Lab,Genomico'' Istituito Tra IGG e IIT / Exome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT

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