Κατεύθυνση Εργαστηριακή / Βασική Έρευνα
Library of the School of Health Sciences

2021-11-16

2021

Katsidi Christina

Μιχαήλ Κουτσιλιερη, Καθηγητής, Ιατρική σχολή, ΕΚΠΑ
Εμμανουηλ Καναβακης, Καθηγητής, Ιατρική σχολή, ΕΚΠΑ
Γεώργιος Βαιοπουλος, Ομότιμος Καθηγητής, Ιατρική σχολή, ΕΚΠΑ

Η κλινική σημασία της ανάλυσης όλων των εξωνίων (whole exome sequencing- wes) στην διερεύνηση συνθετών κλινικών φαινοτύπων

Greek

Τhe clinical significance of whole exome sequencing in the investigation of complex clinical phenotypes

The field of Medical Genetics deals with the study of genetic diseases, both at research and clinical level. A particularly important factor for the study of genetic diseases is the accurate detection and interpretation of genetic causes responsible for their occurrence. Locating gene sites and the genetic interactions which are responsible for the occurrence of pathological phenotypes contribute to the genetic diagnosis and consequently the identification of each disease. Genetic diagnosis is important due to the fact that locating the genetic cause enables the application of medical precision in order to give the appropriate clinical administration and medication, individually for each patient.
In the clinical field, genetic diagnosis can be achieved through the correct application of laboratory cytogenetic and molecular techniques. Depending on the clinical phenotype of the patient and the reason for referral, the corresponding laboratory technique is applied. A basic instrument of the clinical laboratory is the Sanger sequencing, which allows the exact sequencing of a selected area to be examined. However, the limitations of this method in combination with the complex clinical phenotype of some patients do not help in achieving a genetic diagnosis of the genetic disease from which they suffer. In recent years, in order to improve the performance of genetic diagnosis, Next Generation Sequencing method is applied in daily clinical practice, which provides the mass sequencing of multiple genetic regions. Next Generation Sequencing is usually applied as (i) targeted sequencing (a gene or gene panel), (ii) whole genome sequencing, and (iii) whole exome sequencing. The method which is suitable to each patient depends on the clinical phenotype and is usually defined by the clinical geneticist. The sequencing technique that is preferred in patients with suspected specific genetic disease is the targeted sequencing. On the contrary, Whole Exome Sequencing is preferable in patients with complex phenotypic features, where suspicion of a specific genetic disease does not exist. Whole Exome Sequencing has a lower cost than whole genome sequencing and provides the opportunity to examinate more genes compared to the targeted sequencing. The purpose of this post-graduate thesis is to determine the clinical significance of application of whole exome sequencing in patients with a complex phenotype compared to targeted sequencing (gene panels). To achieve the aforementioned purpose, clinical data of 150 patients with complex clinical phenotypic characteristics were collected. These patients came to the Genesis-Genoma Lab diagnostic center to investigate the genetic basis of their clinical phenotype between the period 2017-2021.

Health Sciences

Exome, Genome, Sequencing, NGS, WES

No

0

Yes

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https://pergamos.lib.uoa.gr/uoa/dl/object/2965787