Skip to Main content Skip to Navigation
Theses

Études d'association génome entier guidées par des réseaux

Abstract : This thesis tackles methodologies to identify the genetic causes of complex diseases. This is usually done via genome-wide association studies (GWAS), when univariate association is studied, and genome-wide association interaction studies, when interactions between genetic factors (or epistasis) are considered (GWAIS). However, both settings present some challenges, namely low statistical power, difficult interpretation, and arbitrary choices at multiple points of the study. In this thesis I study how a framework that uses biological networks can help overcome these issues and boost biomarker discovery. This is done by incorporating prior knowledge into the statistical analysis and putting every single nucleotide polymorphism (SNP) and gene in relation to their biological context. By analyzing two datasets, on breast cancer and inflammatory bowel disease, I demonstrate the utility of networks to discover new mechanisms of susceptibility. These involve individual SNPs, as well as groups of SNPs in epistasis, two-way and higher. I also show how including networks in GWAS and GWAIS boosts the interpretability of the results and produces compelling biological hypotheses.
Document type :
Theses
Complete list of metadata

https://pastel.archives-ouvertes.fr/tel-03270879
Contributor : Abes Star :  Contact
Submitted on : Friday, June 25, 2021 - 11:05:56 AM
Last modification on : Wednesday, November 17, 2021 - 12:31:12 PM
Long-term archiving on: : Sunday, September 26, 2021 - 8:54:37 PM

File

2020UPSLM001_archivage.pdf
Version validated by the jury (STAR)

Identifiers

  • HAL Id : tel-03270879, version 1

Citation

Héctor Climente González. Études d'association génome entier guidées par des réseaux. Bio-informatique [q-bio.QM]. Université Paris sciences et lettres, 2020. Français. ⟨NNT : 2020UPSLM001⟩. ⟨tel-03270879⟩

Share

Metrics

Record views

53

Files downloads

39