Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
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 …
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 …
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
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 …
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 …
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
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 …
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 …
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
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 …
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 …
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 …
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 …
Association Studies (GWAS), a weighted haplotype-based approach and an imputation-based …