scholarly journals Analysis of Case-Control Association Studies: SNPs, Imputation and Haplotypes

2009 ◽  
Vol 24 (4) ◽  
pp. 489-502 ◽  
Author(s):  
Nilanjan Chatterjee ◽  
Yi-Hau Chen ◽  
Sheng Luo ◽  
Raymond J. Carroll
Keyword(s):  
Association Studies ◽  
Case Control ◽  
Control Association

scholarly journals Leveraging Family History in Population-Based Case-Control Association Studies

2014 ◽  
Vol 38 (2) ◽  
pp. 114-122 ◽  
Author(s):  
Arpita Ghosh ◽  
Patricia Hartge ◽  
Peter Kraft ◽  
Amit D. Joshi ◽  
Regina G. Ziegler ◽  
...  
Keyword(s):  
Family History ◽  
Association Studies ◽  
Population Based ◽  
Case Control ◽  
Control Association

A Retrospective Likelihood Approach for Efficient Integration of Multiple Omics Factors in Case-Control Association Studies

2015 ◽  
Vol 39 (3) ◽  
pp. 156-165 ◽  
Author(s):  
Brunilda Balliu ◽  
Roula Tsonaka ◽  
Stefan Boehringer ◽  
Jeanine Houwing-Duistermaat
Keyword(s):  
Association Studies ◽  
Case Control ◽  
Efficient Integration ◽  
Retrospective Likelihood ◽  
Likelihood Approach ◽  
Control Association

scholarly journals Robust ranks of true associations in genome-wide case-control association studies

2007 ◽  
Vol 1 (S1) ◽  
Author(s):  
Gang Zheng ◽  
Jungnam Joo ◽  
Jing-Ping Lin ◽  
Mario Stylianou ◽  
Myron A Waclawiw ◽  
...  
Keyword(s):  
Association Studies ◽  
Case Control ◽  
Genome Wide ◽  
Control Association

scholarly journals Marker selection for genetic case–control association studies

2009 ◽  
Vol 4 (5) ◽  
pp. 743-752 ◽  
Author(s):  
Fredrik H Pettersson ◽  
Carl A Anderson ◽  
Geraldine M Clarke ◽  
Jeffrey C Barrett ◽  
Lon R Cardon ◽  
...  
Keyword(s):  
Association Studies ◽  
Case Control ◽  
Marker Selection ◽  
Selection For ◽  
Control Association

Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate

2020 ◽  
pp. 105566562098023
Author(s):  
José A. Velázquez-Aragón ◽  
Ariadna González-del Angel ◽  
Miguel A. Alcántara-Ortigoza ◽  
Miriam E. Reyna-Fabián ◽  
Bernardette Estandia-Ortega
Keyword(s):  
Association Study ◽  
Cleft Lip ◽  
Diagnostic Yield ◽  
Association Studies ◽  
Tertiary Care ◽  
Case Series ◽  
Case Control ◽  
Retrospective Case ◽  
Cleft Lip Palate ◽  
Control Association

Objective: To screen for interferon regulatory factor 6 (IRF6) pathogenic variants in patients clinically diagnosed with nonsyndromic cleft lip palate (NSCL/P) and establish the proportion of misdiagnosed Van der Woude syndrome (VWS) cases, which could have biased previous NSCL/P case–control association studies. Design: Retrospective case series. Setting: Tertiary care children’s hospital. Participants: One hundred seventy-two unrelated Mexican patients with NSCL/P, 128 of whom had previously been included in a NSCL/P case–control association study. Main Outcomes Measurements: Sanger sequencing of the 9 IRF6 exons were performed, all variants respect with sequence reference were reported and classified for their pathogenic significance according to the American College of Medical Genetics and Genomics guidelines. Results: Seven percent of cases were familial. No pathogenic variant was identified in IRF6. We identified 12 previously reported benign variants; their frequencies did not significantly differ from those reported for individuals of Mexican ancestry. Three of them were uncommon intronic variants not reported in ClinVar. The rs2235371 and rs2235375 variants, which were previously analyzed in a NSCL/P case–control association study (containing 132 patients, 128 of whom were analyzed herein) did not show discordant association results comparing to the 370 controls from the previous study. Conclusions: The misdiagnosis of IRF6-related VWS as NSCL/P appears to be infrequent in our sample, suggesting that mutational screening of IRF6 would have a low diagnostic yield in patients with NSCL/P. The absence of IRF6 pathogenic alleles could be related to the application of an exhaustive clinical evaluation that discarded the syndromic forms and/or the low proportion of familial cases included.

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