Ross P. Byrne
A5024519340- Amyotrophic Lateral Sclerosis Research
- Genetic Associations and Epidemiology
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Forensic and Genetic Research
- Race, Genetics, and Society
- Forensic Anthropology and Bioarchaeology Studies
- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Genetics, Aging, and Longevity in Model Organisms
- Pneumothorax, Barotrauma, Emphysema
- Genetic Neurodegenerative Diseases
- Ultrasound in Clinical Applications
- Telomeres, Telomerase, and Senescence
- Iron Metabolism and Disorders
- Bioinformatics and Genomic Networks
- Folate and B Vitamins Research
- Romani and Gypsy Studies
- COVID-19 and healthcare impacts
- Gene Regulatory Network Analysis
- Parkinson's Disease Mechanisms and Treatments
- Evolution and Genetic Dynamics
- Epigenetics and DNA Methylation
- Birth, Development, and Health
- Pulmonary Hypertension Research and Treatments
Trinity College Dublin
2017-2025
Royal College of Surgeons in Ireland
2024
National Human Genome Research Institute
2024
University of Oxford
2024
Abstract There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up 60%. Both Mendelian and small effect variants have been identified, but in common other conditions, such only explain little the heritability. Genomic structural variation might account for some this otherwise unexplained We therefore investigated association between set 25 ALS genes, risk phenotype. As expected, repeat expansion C9orf72 gene was identified as...
Abstract Increasingly, repeat expansions are being identified as part of the complex genetic architecture amyotrophic lateral sclerosis. To date, several have been genetically associated with disease: intronic in C9orf72, polyglutamine ATXN2 and polyalanine NIPA1. Together previously published data, identification an sclerosis patient a family history spinocerebellar ataxia type 1, caused by ATXN1, suggested similar disease association for expansion ATXN1. We, therefore, performed...
Previous studies of the genetic landscape Ireland have suggested homogeneity, with population substructure undetectable using single-marker methods. Here we harnessed haplotype-based method fineSTRUCTURE in an Irish genome-wide SNP dataset, identifying 23 discrete clusters which segregate geographical provenance. Cluster diversity is pronounced west but reduced east where older structure has been eroded by historical migrations. Accordingly, when populations from neighbouring island Britain...
Abstract Previous genetic studies have identified local population structure within the Netherlands; however their resolution is limited by use of unlinked markers and absence external reference data. Here we apply advanced haplotype sharing methods (ChromoPainter/fineSTRUCTURE) to study fine-grained demographic change across Netherlands using genome-wide single nucleotide polymorphism data (1,626 individuals) with associated geography (1,422 individuals). We identify 40 haplotypic clusters...
Significantly more men develop amyotrophic lateral sclerosis (ALS) than women, and heritability is not uniform between male female transmissions, together suggesting a role for sex in the genetic aetiology of disease. We therefore performed sex-stratified genome-wide transcriptome-wide analyses ALS risk, identifying six novel sex-specific risk loci including MEF2C , which shows increased expression motor neurones. X-chromosome analysis revealed an additional locus at IL1RAPL2 .
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with life-time risk of 1 in 350 people and an unmet need for disease-modifying therapies. We conducted cross-ancestry GWAS ALS including 29,612 patients 122,656 controls which identified 15 loci ALS. When combined 8,953 whole-genome sequenced individuals (6,538 patients, 2,415 controls) the largest cortex-derived eQTL dataset (MetaBrain), analyses revealed locus-specific genetic architectures we prioritized...
Sex is an important covariate in all genetic and epigenetic research due to its role the incidence, progression outcome of many phenotypic characteristics human diseases. Amyotrophic lateral sclerosis (ALS) a motor neuron disease with sex bias towards higher incidence males. Here, we report for first time blood-based epigenome-wide association study meta-analysis 9274 individuals after stringent quality control (5529 males 3975 females). We identified total 226 ALS saDMPs (sex-associated...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of upper and lower motor neurons, leading to progressive weakness voluntary muscles, with death following from neuromuscular respiratory failure, typically within 3 5 years. There strong genetic contribution ALS risk. In 10% or more, family history frontotemporal dementia obtained, Mendelian genes responsible for in such families have now been identified about 50% cases. Only 14% apparently sporadic...
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with life-time risk of 1 in 350 people and an unmet need for disease-modifying therapies. We conducted cross-ancestry GWAS ALS including 29,612 patients 122,656 controls which identified 15 loci ALS. When combined 8,953 whole-genome sequenced individuals (6,538 patients, 2,415 controls) the largest cortex-derived eQTL dataset (MetaBrain), analyses revealed locus-specific genetic architectures we prioritized...
Abstract Previous studies of the genetic landscape Ireland have suggested homogeneity, with population substructure undetectable using single-marker methods. Here we harnessed haplotype-based method fineSTRUCTURE in an Irish genome-wide SNP dataset, identifying 23 discrete clusters which segregate geographical provenance. Cluster diversity is pronounced west but reduced east where older structure has been eroded by historical migrations. Accordingly, when populations from neighbouring island...
We studied fine-grained population genetic structure and demographic change across the Netherlands using genome-wide single nucleotide polymorphism data (1,626 individuals) with associated geography (1,422 individuals). applied ChromoPainter/fineSTRUCTURE, identifying 40 haplotypic clusters exhibiting strong north/south variation fine-scale differentiation within provinces. Clustering is tied to country-wide ancestry gradients from neighbouring lands locally restricted gene flow major Dutch...
ABSTRACT Background While subtle yet discrete clusters of genetic identity across Ireland and Britain have been identified, their demographic history is unclear. Methods Using genotype data from 6,574 individuals with associated regional Irish or British ancestry, we identified Irish-like British-like communities using network community detection. We segregated Identity-by-Descent (IBD) Runs-of-Homozygosity (ROH) segments by length approximated corresponding time periods. Through this,...
<title>Abstract</title> While subtle yet discrete clusters of genetic identity across Ireland and Britain have been identified, their demographic history is unclear.<bold> </bold>Using genotype data from 6,574 individuals with associated regional Irish or British ancestry, we identified communities by applying Leiden community detection. Using haplotype segments segregated length as proxy for time, inferred histories. For a subset the communities, provide genealogical context estimating...