Research Project:
Evolutionary Insights into the Genetics of Sleep Phase Disorders Using Cactus447way Genome Alignments and the UK Biobank Sleep Cohort

Project Logo

Contributors

Funders

ID

970112

Authors

Publications

Organizational Units

Description

Research Outline:Sleep phase disorders, such as advanced or delayed sleep phase syndrome, are complex traits influenced by both genetic and environmental factors. Despite growing interest, the genetic mechanisms underlying variation in sleep timing across individuals remain incompletely understood. Importantly, evolutionary conservation of circadian genes across species offers a promising lens through which to prioritize functionally relevant variants.This project aims to investigate the evolutionary and genetic architecture of sleep phase disorders by integrating cross-species genome alignments (Cactus447way) with large-scale human genomic data from the UK Biobank sleep cohort.Research questions:1. Are variants associated with sleep phase traits enriched in evolutionarily conserved regions?2. Do diurnal- or nocturnal-specific variants identified in the Cactus447way alignment have predictive or functional relevance in human sleep phenotypes?Objectives:- To identify variants from conserved genomic regions and those specific to diurnal or nocturnal species using the Cactus447way alignment.- To map these variants to orthologous human loci.- To test for associations between these conserved/specific variants and sleep-related phenotypes in the UK Biobank cohort.- To explore whether conservation status improves the interpretability or predictive value of sleep trait-associated loci.Scientific rationale:By integrating evolutionary conservation with human population-scale data, this study will enhance understanding of the genetic regulation of circadian rhythms and sleep disorders. Leveraging comparative genomics alongside the deep phenotyping of the UK Biobank cohort may uncover biologically meaningful variants that would be missed by conventional genome-wide association studies (GWAS) alone.

Keywords

Bilgisayar Bilimleri
Biyoenformatik
Yaşam Bilimleri
Moleküler Biyoloji ve Genetik
Genetik Bozuklukların Moleküler Biyolojisi
Populasyon Biyolojisi
Evrim
Populasyon Genetiği
Temel Bilimler
Mühendislik ve Teknoloji
Computer Sciences
bioinformatics
Life Sciences
Molecular Biology and Genetics
Genetic Disorders
Population Biology
Evolution
Population Genetics
Natural Sciences
Engineering and Technology
Mühendislik Bilişim ve Teknoloji (Eng)
Bilgisayar Bilimi Teori ve Yöntem
Temel Bilimler (Sci)
Yaşam Bilimleri (Life)
Bilgisayar Bilimi
Doğa Bilimleri Genel
Çok Disiplinli Bilimler
Gelişimsel Biyoloji
Engineering Computing & Technology (Eng)
Computer Science Theory & Methods
Natural Sciences (Sci)
Life Sciences (Life)
Computer Science
Molecular Biology & Genetics
Natural Sciences General
Multidisciplinary Sciences
Developmental Biology
Embriyoloji
Teorik Bilgisayar Bilimi
Bilgisayar Bilimi Uygulamaları
Bilgisayar Bilimi (çeşitli)
Genel Bilgisayar Bilimi
Moleküler Biyoloji
Multidisipliner
Sağlık Bilimleri
Fizik Bilimleri
Embryology
Theoretical Computer Science
Computer Science Applications
Computer Science (miscellaneous)
General Computer Science
Molecular Biology
Multidisciplinary
Health Sciences
Physical Sciences