Högskolan i Skövde

his.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • apa-cv
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Improving methylation risk scores in schizophrenia using topologically associating domains with LDpred2
University of Skövde, School of Bioscience.
2024 (English)Independent thesis Advanced level (degree of Master (One Year)), 20 credits / 30 HE creditsStudent thesis
Abstract [en]

Methylation risk scores are derived from epigenome-wide association studies and can be used to assess the propensity for complex diseases such as schizophrenia in test subjects, and to measure the overall influence of methylation on the schizophrenia phenotype. Methods for creating methylation risk scores are lagging behind those for polygenic risk scores, and advances have been made using machine learning for polygenic risk scores that have so far not been tested for methylation risk scores. This study aimed to adapt the polygenic risk score creation R package LDpred2 for methylation data by incorporating topologically associating domains as a prior. The resulting method, named “TADpred”, was trained on summary statistics derived from public data (N=2015) and tested on individual-level data from schizophrenia cases and healthy controls (N=1227). TADpred outperformed the previous best-performing pruning and thresholding method, with the pseudo-R2 values being 0.036 and 0.021 for TADpred and pruning and thresholding, respectively, when regressing the scores against the known schizophrenia case-control phenotypes. Pathway and enrichment analysis of the 2269 most important biological features in the TADpred model did not reveal any known connection to schizophrenia. TADpred shows that it is feasible to adapt methods from polygenic risk scores for methylation, despite differences between genotype and methylation data, and that topologically associating domains are suitable as a prior in statistical methods dealing with methylation.

Place, publisher, year, edition, pages
2024. , p. 35
National Category
Bioinformatics (Computational Biology)
Identifiers
URN: urn:nbn:se:his:diva-24150OAI: oai:DiVA.org:his-24150DiVA, id: diva2:1881278
External cooperation
Universitetet i Bergen
Subject / course
Bioinformatics
Educational program
Bioinformatics - Master’s Programme
Supervisors
Examiners
Available from: 2024-07-02 Created: 2024-07-02 Last updated: 2025-09-29Bibliographically approved

Open Access in DiVA

fulltext(1217 kB)101 downloads
File information
File name FULLTEXT01.pdfFile size 1217 kBChecksum SHA-512
f75d3e4d2e3d92a6c14d0ed5d9e840009a2311081b886b058fe6f5523c66016fb3a9384d13dca77c822ececc070264a61a08536a658b71534223a8412cbdfae0
Type fulltextMimetype application/pdf

By organisation
School of Bioscience
Bioinformatics (Computational Biology)

Search outside of DiVA

GoogleGoogle Scholar
Total: 101 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

urn-nbn

Altmetric score

urn-nbn
Total: 473 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • apa-cv
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf