Mortality Among Patients With Early-Onset Atrial Fibrillation and Rare Variants in Cardiomyopathy and Arrhythmia Genes
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Cardiology"
DOI: 10.1001/jamacardio.2022.0810
Abstract: This cohort study assesses the association of rare variants of cardiomyopathy and arrhythmia genes with all-cause mortality among patients with early-onset atrial fibrillation. read more here.
Keywords: rare variants; mortality among; cardiomyopathy arrhythmia; arrhythmia genes ... See more keywords
Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.742
Abstract: [This corrects the article DOI: 10.1002/acn3.582.]. read more here.
Keywords: exome sequencing; sequencing 197; 197 persons; rare variants ... See more keywords
PreCimp: Pre‐collapsing imputation approach increases imputation accuracy of rare variants in terms of collapsed variables
Sign Up to like & getrecommendations! Published in 2017 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22020
Abstract: Imputation is widely used for obtaining information about rare variants. However, one issue concerning imputation is the low accuracy of imputed rare variants as the inaccurate imputed rare variants may distort the results of region‐based… read more here.
Keywords: imputation; accuracy; collapsed variables; pre collapsing ... See more keywords
Rare variant association test with multiple phenotypes
Sign Up to like & getrecommendations! Published in 2017 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22021
Abstract: Although genome‐wide association studies (GWAS) have now discovered thousands of genetic variants associated with common traits, such variants cannot explain the large degree of “missing heritability,” likely due to rare variants. The advent of next… read more here.
Keywords: multiple phenotypes; association test; association; rare variants ... See more keywords
Rare variant association testing for multicategory phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22210
Abstract: Genetic association studies have provided new insights into the genetic variability of human complex traits with a focus mainly on continuous or binary traits. Methods have been proposed to take into account disease heterogeneity between… read more here.
Keywords: association testing; association; burden tests; rare variants ... See more keywords
A general statistic to test an optimally weighted combination of common and/or rare variants
Sign Up to like & getrecommendations! Published in 2019 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22255
Abstract: Both genome‐wide association study and next‐generation sequencing data analyses are widely employed to identify disease susceptible common and/or rare genetic variants. Rare variants generally have large effects though they are hard to detect due to… read more here.
Keywords: optimally weighted; common rare; rare variants; test ... See more keywords
Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes.
Sign Up to like & getrecommendations! Published in 2023 at "Genetic epidemiology"
DOI: 10.1002/gepi.22529
Abstract: Current software packages for the analysis and the simulations of rare variants are only available for binary and continuous traits. Ravages provides solutions in a single R package to perform rare variant association tests for… read more here.
Keywords: rare variants; simulation analysis; package simulation; analysis rare ... See more keywords
Reply to: “Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort”
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders"
DOI: 10.1002/mds.29373
Abstract: We thank Dr. Chunyu Li and colleagues for their interest in our work and for further exploring the link between rare variants in TWNK and Parkinson’s disease (PD). To this aim, they performed a burden… read more here.
Keywords: rare variants; twnk; parkinson disease; variants twnk ... See more keywords
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1388
Abstract: Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. read more here.
Keywords: gabaa receptor; receptor subunit; variants gabaa; identified patients ... See more keywords
Exome‐based genome‐wide screening of rare variants associated with the risk of polycystic ovary syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Reproductive Medicine and Biology"
DOI: 10.1002/rmb2.12504
Abstract: Abstract Purpose Genetic factors associated with the risk of polycystic ovary syndrome (PCOS) remain largely unknown. Here, we conducted an optimal sequence kernel association test (SKAT‐O), an exome‐based rare variant association study, to clarify whether… read more here.
Keywords: rare variants; polycystic ovary; ovary syndrome; risk polycystic ... See more keywords
A unified method for rare variant analysis of gene-environment interactions.
Sign Up to like & getrecommendations! Published in 2019 at "Statistics in medicine"
DOI: 10.1002/sim.8446
Abstract: Advanced technology in whole-genome sequencing has offered the opportunity to comprehensively investigate the genetic contribution, particularly rare variants, to complex traits. Several region-based tests have been developed to jointly model the marginal effect of rare… read more here.
Keywords: method; rare variants; environment interactions; gene ... See more keywords