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Genotyping and genetic diagnosis

The genotyping and genetic diagnosis unit (UGDG) of the Fundación Investigación Clínico de Valencia-INCLIVA (FIHCV-INCLIVA) was created in 2002, when Dr. FJ Chaves joined the foundation. Since then, the aim of this unit has been to develop its own research projects, and projects in collaboration with other groups, and to use the knowledge gained to support other groups’ and clinical research.

For this reason, the UGDG has increased the number of techniques available and the ability to perform different types of studies. The techniques currently available in the UGDG are varied and allow performing small studies with few samples, or the analysis of a few DNA fragments in thousands of samples and the sequencing of the exome in numerous samples, or of the whole transcriptome. The main techniques are: standard and quantitative PCR, standard or next-generation sequencing through two different systems, microarray study, etc.

The UGDG has all the necessary equipment to carry out the aforementioned tasks, including an automated DNA/RNA extraction system (Chamagic, Chemagen), automated liquid handling workstations (Starlet: Hamilton), regular and real-time thermal cyclers, capillary sequencer (48 capillaries) and 2 next-generation sequencers (Roche GS Junior and Illumina HiScanSQ). Moreover, HiScanSQ can also read different Illumina microarrays.

The techniques used and the equipment available allow us to perform studies on the quantification and sequencing of messenger RNA or micro RNAs, genotyping of many samples, gene or small genomes sequencing, metagenomics studies, simultaneous sequencing of transcriptomes, miRNAs, exome of hundreds of genes, genetic diagnosis of many diseases, pharmacogenetic studies, etc.


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