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Overview
The Genomic and Transcriptomic (GT) Unit at CAAD is aimed at producing and analyzing data in the genomic and transcriptomic field obtained with NGS and/or arrays, both for UPO researchers as well as external users.
UNIT staff supports users in designing, performing and interpreting high-throughput genomic and transcriptomic experiments for biomarker discovery and/or analyses of multifactorial and monogenic traits.
GT Unit operates tightly with Bioinformatics Unit at CAAD and offers an integrated pipeline which covers the entire process from the purification of nucleic acid from biosamples to the bioinformatic interpretation of the results. In addition, the Unit offers the interpretation of the genomic results and the preparation of the medical report, suitable for genetic counseling, to medical specialists, patients and researches.
Equipment
To reserve these instruments/services, it is necessary to be registered with the "Agendo" centralized management system.
To register, fill in the following Registration Form
If you are already registered, log in to the system https://upo.agendoscience.com/
The Unit is equipped with the following instruments:
· Next Generation Sequencing Instruments: Illumina MiSeq System and NextSeq 550 Sequencing System .
· Infinium Option Starter kit for the manual preparation and scanning of the Infinium BeadChip arrays such as Infinium® HumanCytoSNP-12, CytoSNP-850K, HumanKaryomap-12 BeadChips, for the identification of Copy Number Variant in human diseases, and the Methyl EPIC 850 array for whole genome human methylation assay of 850,000 CpGs
· SeqStudio Genetic Analyzer (ThermoFisher Scientific, Life Technologies) for Sanger sequencing and DNA fragment analysis for applications such as Microsatellite/tandem repeat sizing and genotyping, MLPA assay
· Real time PCR Bio-Rad CFX384 qPCR and Bio-Rad CFX96 qPCR Instrument, droplet digital PCR (ddPCR, QX200 Bio-Rad)
· Agilent 4200 TapeStation System , a system for sample Quality Control during NGS workflows
· Tecan Freedom EVO100, an automatic workstation for liquid transfer.
Services
This Unit offers laboratory and computational support for all the main type of high-throughput NGS sequencing analysis such as target sequencing of gene panels, whole exome sequencing, mRNA and microRNA- sequencing. In addition, the Unit offers Sanger sequencing as well as support to nucleic acid purification and quantification.
The Unit offers diagnostic tests using either validated genetic diagnostic tests as well as new genetic tests developed and validated within projects of the Institute as well as upon requests from external laboratories and partners.
These analyses are mainly based on a local implementation of state-of-the-art NGS sequencing pipelines. In addition to that, the Unit offers consultancy for non-standard analysis and support over long-term projects.
Type of Access
No access to the instrument infrastructures is allowed for external users, due to security reasons.
Costs: for quotation request please conctact Prof. ssa Sandra D'ALFONSO
Service traceability
Analysis and result layouts are provided by appropriate software.
Contacts
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