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Avtomatizacija identifikacije in analize lokusov kvantitativnih lastnosti
ID Vrhovšek, Blaž (Author), ID Gostinčar, Cene (Mentor) More about this mentor... This link opens in a new window, ID Kokošar, Janez (Comentor)

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Abstract
Izražanje kvantitativnih lastnosti določajo številni geni in okoljski dejavniki. S kombiniranjem podatkov o fenotipu in genotipu lahko določimo lokuse, ki vplivajo na kvantitativno lastnost. Kljub neprestanemu tehnološkemu napredku pri sekvenciranju celotnega genoma (WGS) ostaja analiza WGS podatkov zapleten in računsko zahteven postopek. Cilj tega dela je poenostaviti odkrivanje lokusov kvantitativnih lastnosti (QTL) iz podatkov WGS po tehniki analize segregant nabora (BSA). V ta namen smo razvili programsko orodje z imenom QTLspyer. Zasnovali smo uporabniku prijazen grafični vmesnik z R-knjižnico Shiny. Postopek odkrivanja je razdeljen na iskanje variant in iskanje QTL-ov. V prvem koraku smo za identifikacijo polimorfizmov posameznih nukleotidov (SNP) z orodjem Genome Analysis Toolkit (GATK) uporabili skripto v programskem jeziku Python. V drugem koraku izračunamo verjetnost vpliva lokusa na kvantitativno lastnost s pomočjo statističnih metod G' in QTL-seq. Uporabili smo funkcije v R-knjižnici QTLseqr. Rezultate programsko orodje uporabniku predstavi v obliki tabel statističnih lastnosti SNP-jev in QTL-jev ter grafično z diagrami, ki prikazujejo verjetnosti vpliva genomske pozicije na kvantitativno lastnost. Aplikacija je skupaj z vsemi potrebnimi orodji shranjena v Docker-sliki. Natančnost orodja QTLspyer smo preverili z analizo podatkov iz že objavljenih študij in s ponovljivostjo rezultatov dokazali primernost in zanesljivost uporabljene metode.

Language:Slovenian
Keywords:lokusi kvantitativnih lastnosti, analiza QTL, metoda BSA, določanje genskih označevalcev, iskanje SNP, bioinformatika, bioinformatska aplikacija
Work type:Master's thesis/paper
Typology:2.09 - Master's Thesis
Organization:BF - Biotechnical Faculty
Place of publishing:Ljubljana
Publisher:[B. Vrhovšek]
Year:2021
PID:20.500.12556/RUL-131676 This link opens in a new window
UDC:575.112:601.4:577.212.3:575.116.4(043.2)
COBISS.SI-ID:79014403 This link opens in a new window
Publication date in RUL:01.10.2021
Views:1666
Downloads:119
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Secondary language

Language:English
Title:Automatic identification and analysis of quantitative trait locus
Abstract:
Expression of quantitative traits is determined by multiple genes and environmental factors. By combining phenotype and genotype data, we can identify loci that influence a quantitative trait. Despite recent advances in whole genome sequencing (WGS), analysis of WGS data remains a complex and computationally intensive process. For our goal of simplifying the detection of quantitative trait loci (QTL) using WGS data based on the bulk segregant analysis (BSA) method, we developed a software tool called QTLspyer. We designed a user-friendly graphical interface using R Shiny. The process of QTL detection was divided into variant calling and QTL finding. In the first step, a Python script is used to call single nucleotide polymorphism (SNPs) using the Genome Analysis Toolkit (GATK). In the second step, the probabilities of potential QTL findings are estimated based on the G’ and QTL-seq approach using an R library called QTLseqr. The results are presented to the user in the form of data tables with the statistical properties of SNPs and QTLs and graphically with plots showing the QTL probabilities for all genome positions. The application with all required tools is contained inside a Docker image. To verify its accuracy, we performed the analysis using datasets from published studies and showed the suitability and reliability of QTLspyer by successfully repeating the results of these studies.

Keywords:Quantitative trait loci, QTL analysis, BSA method, variant calling, SNP calling, bioinformatics, bioinformatics application

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