scholarly journals Gene‐based and pathway‐based testing for rare‐variant association in affected sib pairs

2020 ◽  
Vol 44 (4) ◽  
pp. 368-381
Author(s):  
Razvan G. Romanescu ◽  
Jessica Green ◽  
Irene L. Andrulis ◽  
Shelley B. Bull
Keyword(s):  
Rare Variant ◽  
Rare Variant Association ◽  
Affected Sib Pairs ◽  
Sib Pairs

scholarly journals Test of rare variant association based on affected sib-pairs

2014 ◽  
Vol 23 (2) ◽  
pp. 229-237 ◽  
Author(s):  
Qiuying Sha ◽  
Shuanglin Zhang
Keyword(s):  
Rare Variant ◽  
Rare Variant Association ◽  
Affected Sib Pairs ◽  
Sib Pairs

scholarly journals RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data: Table 1.

2016 ◽  
Vol 32 (9) ◽  
pp. 1423-1426 ◽  
Author(s):  
Xiaowei Zhan ◽  
Youna Hu ◽  
Bingshan Li ◽  
Goncalo R. Abecasis ◽  
Dajiang J. Liu
Keyword(s):  
Association Analysis ◽  
Rare Variant ◽  
Sequence Data ◽  
Rare Variant Association ◽  
Data Table

scholarly journals Pooled Sequencing and Rare Variant Association Tests for Identifying the Determinants of Emerging Drug Resistance in Malaria Parasites

2015 ◽  
Vol 32 (4) ◽  
pp. 1080-1090 ◽  
Author(s):  
Ian H. Cheeseman ◽  
Marina McDew-White ◽  
Aung Pyae Phyo ◽  
Kanlaya Sriprawat ◽  
François Nosten ◽  
...  
Keyword(s):  
Drug Resistance ◽  
Rare Variant ◽  
Malaria Parasites ◽  
Rare Variant Association ◽  
Association Tests ◽  
Pooled Sequencing

A Powerful Adaptive Cauchy-Variable Combination Method for Rare-Variant Association Analysis

2021 ◽  
Vol 57 (2) ◽  
pp. 238-245
Author(s):  
Y. Tang ◽  
Y. Zhou ◽  
L. Chen ◽  
Y. Bao ◽  
R. Zhang
Keyword(s):  
Association Analysis ◽  
Rare Variant ◽  
Combination Method ◽  
Rare Variant Association ◽  
Variable Combination

Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses

2021 ◽  
Author(s):  
Minxian Wang ◽  
Vivian S. Lee-Kim ◽  
Deepak S. Atri ◽  
Nadine H. Elowe ◽  
John Yu ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Association Analysis ◽  
Rare Variant ◽  
Odds Ratio ◽  
Large Scale ◽  
Missense Mutations ◽  
Rare Variant Association ◽  
Missense Variants ◽  
Artery Disease

Background: Corin is a protease expressed in cardiomyocytes that plays a key role in salt handling and intravascular volume homeostasis via activation of natriuretic peptides. It is unknown if Corin loss-of-function (LOF) is causally associated with risk of coronary artery disease (CAD). Methods: We analyzed all coding CORIN variants in an Italian case-control study of CAD. We functionally tested all 64 rare missense mutations in Western Blot and Mass Spectroscopy assays for proatrial natriuretic peptide cleavage. An expanded rare variant association analysis for Corin LOF mutations was conducted in whole exome sequencing data from 37 799 CAD cases and 212 184 controls. Results: We observed LOF variants in CORIN in 8 of 1803 (0.4%) CAD cases versus 0 of 1725 controls ( P , 0.007). Of 64 rare missense variants profiled, 21 (33%) demonstrated <30% of wild-type activity and were deemed damaging in the 2 functional assays for Corin activity. In a rare variant association study that aggregated rare LOF and functionally validated damaging missense variants from the Italian study, we observed no association with CAD—21 of 1803 CAD cases versus 12 of 1725 controls with adjusted odds ratio of 1.61 ([95% CI, 0.79–3.29]; P =0.17). In the expanded sequencing dataset, there was no relationship between rare LOF variants with CAD was also observed (odds ratio, 1.15 [95% CI, 0.89–1.49]; P =0.30). Consistent with the genetic analysis, we observed no relationship between circulating Corin concentrations with incident CAD events among 4744 participants of a prospective cohort study—sex-stratified hazard ratio per SD increment of 0.96 ([95% CI, 0.87–1.07], P =0.48). Conclusions: Functional testing of missense mutations improved the accuracy of rare variant association analysis. Despite compelling pathophysiology and a preliminary observation suggesting association, we observed no relationship between rare damaging variants in CORIN or circulating Corin concentrations with risk of CAD.

Intersection analysis and rare variant association studies

2017 ◽  
pp. 315-320
Author(s):  
Peter N. Robinson ◽  
Rosario M. Piro ◽  
Marten Jäger
Keyword(s):  
Rare Variant ◽  
Association Studies ◽  
Rare Variant Association ◽  
Intersection Analysis

scholarly journals A novel statistical method for rare-variant association studies in general pedigrees

2016 ◽  
Vol 10 (S7) ◽  
Author(s):  
Huanhuan Zhu ◽  
Zhenchuan Wang ◽  
Xuexia Wang ◽  
Qiuying Sha
Keyword(s):  
Statistical Method ◽  
Rare Variant ◽  
Association Studies ◽  
Rare Variant Association

scholarly journals Leveraging population information in family-based rare variant association analyses of quantitative traits

2016 ◽  
Vol 41 (2) ◽  
pp. 98-107 ◽  
Author(s):  
Yu Jiang ◽  
Yunqi Ji ◽  
Alexander B. Sibley ◽  
Yi-Ju Li ◽  
Andrew S. Allen
Keyword(s):  
Rare Variant ◽  
Quantitative Traits ◽  
Rare Variant Association ◽  
Association Analyses ◽  
Population Information ◽  
Family Based
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