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

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dc.contributorÜstünel, Faruk
dc.contributorOnat, Onur Emre
dc.date.accessioned2026-01-13T21:37:25Z
dc.date.issued2025-09-03
dc.descriptionResearch 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.
dc.identifier970112
dc.identifier.urihttps://hdl.handle.net/20.500.12645/41591
dc.subjectBilgisayar Bilimleri
dc.subjectBiyoenformatik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGenetik Bozuklukların Moleküler Biyolojisi
dc.subjectPopulasyon Biyolojisi
dc.subjectEvrim
dc.subjectPopulasyon Genetiği
dc.subjectTemel Bilimler
dc.subjectMühendislik ve Teknoloji
dc.subjectComputer Sciences
dc.subjectbioinformatics
dc.subjectLife Sciences
dc.subjectMolecular Biology and Genetics
dc.subjectGenetic Disorders
dc.subjectPopulation Biology
dc.subjectEvolution
dc.subjectPopulation Genetics
dc.subjectNatural Sciences
dc.subjectEngineering and Technology
dc.subjectMühendislik Bilişim ve Teknoloji (Eng)
dc.subjectBilgisayar Bilimi Teori ve Yöntem
dc.subjectTemel Bilimler (Sci)
dc.subjectYaşam Bilimleri (Life)
dc.subjectBilgisayar Bilimi
dc.subjectDoğa Bilimleri Genel
dc.subjectÇok Disiplinli Bilimler
dc.subjectGelişimsel Biyoloji
dc.subjectEngineering Computing & Technology (Eng)
dc.subjectComputer Science Theory & Methods
dc.subjectNatural Sciences (Sci)
dc.subjectLife Sciences (Life)
dc.subjectComputer Science
dc.subjectMolecular Biology & Genetics
dc.subjectNatural Sciences General
dc.subjectMultidisciplinary Sciences
dc.subjectDevelopmental Biology
dc.subjectEmbriyoloji
dc.subjectTeorik Bilgisayar Bilimi
dc.subjectBilgisayar Bilimi Uygulamaları
dc.subjectBilgisayar Bilimi (çeşitli)
dc.subjectGenel Bilgisayar Bilimi
dc.subjectMoleküler Biyoloji
dc.subjectMultidisipliner
dc.subjectSağlık Bilimleri
dc.subjectFizik Bilimleri
dc.subjectEmbryology
dc.subjectTheoretical Computer Science
dc.subjectComputer Science Applications
dc.subjectComputer Science (miscellaneous)
dc.subjectGeneral Computer Science
dc.subjectMolecular Biology
dc.subjectMultidisciplinary
dc.subjectHealth Sciences
dc.subjectPhysical Sciences
dc.titleEvolutionary Insights into the Genetics of Sleep Phase Disorders Using Cactus447way Genome Alignments and the UK Biobank Sleep Cohort
dspace.entity.typeProject
local.avesis.id1ea35fb2-3572-493a-a5b1-f8ed18863632
local.project.countryİngiltere
local.project.statusDevam Ediyor
local.project.typeDiğer Ülkelerdeki Özel Organizasyonlar Tarafından Desteklenmiş Proje
project.endDate2028-09-03
project.startDate2025-09-03

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