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VARSKOR: Variant Prioritization and Scoring Tool for Genomic Data Analysis

Project Code: 1501
Project Name: VARSKOR: Variant Prioritization and Scoring Tool for Genomic Data Analysis (TÜBİTAK 1501)

Nowadays, Next Generation Sequencing (NGS) is a new emerging field widely used for genetic diagnosis. The majority of the approximately 20,000 variants that have been confirmed by the whole exom sequencing have no causative effect, and one or more disease-causing variants must be identified among these variants to diagnose. The manual process of variant filtering is a challenging and long process. Furthermore, some ...

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THE DEVELOPMENT OF A NEXT GENERATİON SEQUENCE ANALYSİS KİT THAT WİLL BE USED FOR CONTAINING 16 GENES THAT CAN BE USED IN DIAGNOSIS AND DIFFERENTIAL DIAGNOSIS OF FABRY DISEASE



Project Code: 7200237 ( TÜBİTAK 1507 )

Fabry disease (alpha-galactosidase A deficiency) is multi-systemic X-linked lysosomal storage disorder. Although its incidence is estimated around 1 / 50,000 in old publications; recent studies show that this rate is much higher. Since Fabry is a very heterogeneous disease in terms of clinical findings, it can be diagnosed approximately 20 years after the onset of symptoms and usually when end-stage renal disease develops in patients. The most important reason for this ...

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THE DEVELOPMENT OF A NEXT GENERATİON SEQUENCE ANALYSİS KİT THAT WİLL BE USED FOR THE RAPID DIAGNOSIS OF COMMON NEWBORN METABOLIC DISEASES

Project Code: 1170544 ( TÜBİTAK 1511 )

Congenital metabolic diseases (DMD) are clinical conditions that result from disorders in various biochemical pathways, mostly onset in childhood, and most of them originate from a single gene defect. DMD is a progressive deterioration that often result in vital clinical conditions. Especially in the neonatal period, these babies often die without being diagnosed. With the rapid advances in next-generation sequencing technology, many newborn screening programs have become genetically based. Within the scope of ...

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THE DEVELOPMENT OF DIAGNOSTIC KITS, DRUG FORMULATIONS AND VACCINES AGAINST INFECTIONS ORIENTING FROM HPV AND INFLUENZA THE MOST THREATENING TO PUBLIC HEALTH IN OUR COUNTRY AND THE WORLD.

Project Code: 20AG037 ( TÜBİTAK 1004 )


Within the scope of the project, it is aimed to develop a genetic diagnosis kit to be used for the type-specific genotyping of HPV and Influenza pathogens, the detection of treatment-resistance genes and the detection of relevant variants of the host genome in terms of susceptibility to complications. This diagnostic kit will be designed as very compact and based on multiplex PCR. At the same time, the kit we will design will ...

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