Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

…, R Mägi, K Pärn, E Hämäläinen, H Huang, AE Byrnes… - Nature …, 2016 - nature.com
Migraine is a debilitating neurological disorder affecting around one in seven people worldwide,
but its molecular mechanisms remain poorly understood. There is some debate about …

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

…, LE Abbott, JR Klim, SD Topp, AE Byrnes… - Nature …, 2019 - nature.com
To discover novel genes underlying amyotrophic lateral sclerosis (ALS), we aggregated
exomes from 3,864 cases and 7,839 ancestry-matched controls. We observed a significant …

[PDF][PDF] To identify associations with rare variants, just WHaIT: weighted haplotype and imputation-based tests

Y Li, AE Byrnes, M Li - The American Journal of Human Genetics, 2010 - cell.com
Empirical evidences suggest that both common and rare variants contribute to complex
disease etiology. Although the effects of common variants have been thoroughly assessed in …

Habitual sleep disturbances and migraine: a Mendelian randomization study

…, E Hämäläinen, H Huang, AE Byrnes… - Annals of clinical …, 2020 - Wiley Online Library
Objective Sleep disturbances are associated with increased risk of migraine, however the
extent of shared underlying biology and the direction of causal relationships between these …

[PDF][PDF] Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

…, C Cusick, T Singh, H Heyne, AE Byrnes… - The American Journal of …, 2021 - cell.com
Both mild and severe epilepsies are influenced by variants in the same genes, yet an
explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 …

Migraine, inflammatory bowel disease and celiac disease: A Mendelian randomization study

…, E Hämäläinen, H Huang, AE Byrnes… - … : The Journal of …, 2023 - Wiley Online Library
Objective To assess whether migraine may be genetically and/or causally associated with
inflammatory bowel disease (IBD) or celiac disease. Background Migraine has been linked to …

The value of statistical or bioinformatics annotation for rare variant association with quantitative trait

AE Byrnes, MC Wu, FA Wright, M Li… - Genetic epidemiology, 2013 - Wiley Online Library
In the past few years, a plethora of methods for rare variant association with phenotype have
been proposed. These methods aggregate information from multiple rare variants across …

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

SMK Farhan, DP Howrigan, LE Abbott, AE Byrnes… - bioRxiv, 2018 - biorxiv.org
To discover novel genetic risk factors underlying amyotrophic lateral sclerosis (ALS), we
aggregated exomes from 3,864 cases and 7,839 ancestry matched controls. We observed a …

Publisher correction: exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, dnajc7, encoding a heat-shock protein

…, LE Abbott, JR Klim, SD Topp, AE Byrnes… - Nature …, 2020 - go.gale.com
… Topp 5 , Andrea E. Byrnes 1 2 3 , Claire Churchhouse 1 2 3 , Hemali Phatnani 6 , Bradley N.
Smith 5 , Evadnie Rampersaud 7 , Gang Wu 7 , Joanne Wuu 8 , Aleksey Shatunov 9 , Alfredo …

Quantitative methods for evaluating association between multiple rare genetic variants and complex human traits

AE Byrnes - 2013 - search.proquest.com
First, we propose two methods for aggregation of rare variants in data from Genome-wide
Association Studies (GWAS), a weighted haplotype-based approach and an imputation-based …