Inovativno sekvenciranje tehnikom dugih očitanja (Long-read WGS) - na pragu ere sveobuhvatne genomske pedijatrijske medicine

master's thesis

• Title (english): Long-read WGS - the doorstep of comprehensive genomic pediatric medicine era
• Author: Magdalena Šabić
• Mentor: Mario Ćuk (mentor)
• Committee member: Katja Dumić Kubat (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Mario Ćuk (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2023-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Ovaj pregledni rad pruža uvid u metodologiju Long- Read Sequencing (LRS) tehnologija. One se odlikuju generiranjem dužih očitanja u usporedbi sa Short- Read Sequencing-om (SRS). Ovakav pristup donosi niz prednosti. Na primjer, duža očitanja omogućuju izravno određivanje složenih strukturnih varijanti, poput inverzija i translokacija, koje je teže detektirati SRS-om. Osim toga, LRS je koristan u analizi ponavljajućih sekvenci koje često predstavljaju izazov za SRS metode. Prednost LRS-a je i mogućnost dobivanja informacija o metilacijskom profilu iz jednog uzorka. Metilacija je epigenetska modifikacija koja igra važnu ulogu u regulaciji gena i razvoju bolesti. Također, iz samo jednog uzorka moguće je odrediti segregaciju. Prikazane su prednosti ovog pristupa u dijagnostici i njegovi doprinosi u odnosu na trenutne tehnologije. Osim prednosti, rad se dotiče i nedostataka ove tehnologije te ukazuje na područja koja mogu biti poboljšana. Jedan od njih je niža preciznost u određivanju baznih parova u usporedbi sa SRS-om. Postoji prostor za napredak u poboljšanju preciznosti LRS-a i smanjenu troškova tehnologije kako bi postala široko dostupna i primjenjiva u kliničkim postavkama.

Abstract (english)

This review provides an insight into the methodology of Long-Read Sequencing (LRS) technologies. They are characterized by generating longer reads compared to Short-Read Sequencing (SRS). This approach brings several advantages. For example, longer reads enable the direct determination of complex structural variants, such as inversions and translocations, which are more challenging to detect with SRS. Additionally, LRS is useful in analyzing repetitive sequences that often pose a challenge for SRS methods. Another advantage of LRS is the ability to obtain information about the methylation profile from a single sample. Methylation is an epigenetic modification that plays an important role in gene regulation and disease development. Furthermore, segregation can be determined from a single sample. The review presents the benefits of this approach in diagnostics and its contributions compared to current technologies. In addition to the advantages, the paper addresses the limitations of this technology and points out areas that can be improved. One of them is the lower accuracy in determining base pairs compared to SRS. There is room for improvement in enhancing the accuracy of LRS and reducing the costs of the technology to make it widely accessible and applicable in clinical settings.

• Keywords: cijelogenomsko istraživanje; genom; sekvenciranje genoma
• Keywords (english): genome; genome sequencing; whole-genome research
• Language: croatian
• URN:NBN: urn:nbn:hr:105:568066
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-11-02 09:36:17