NDLI: An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity

Content Provider	PubMed Central
Author	Jennifer, Asimit Aaron, Day-williams Lina, Zgaga Rudan, Igor Boraska, Vesna Zeggini, Eleftheria
Copyright Year	2012
Abstract	Meta-analysis has proven a useful tool in genetic association studies. Allelic heterogeneity can arise from ethnic background differences across populations being meta-analyzed (for example, in search of common frequency variants through genome-wide association studies), and through the presence of multiple low frequency and rare associated variants in the same functional unit of interest (for example, within a gene or a regulatory region). The latter challenge will be increasingly relevant in whole-genome and whole-exome sequencing studies investigating association with complex traits. Here, we evaluate the performance of different approaches to meta-analysis in the presence of allelic heterogeneity. We simulate allelic heterogeneity scenarios in three populations and examine the performance of current approaches to the analysis of these data. We show that current approaches can detect only a small fraction of common frequency causal variants. We also find that for low-frequency variants with large effects (odds ratios 2–3), single-point tests have high power, but also high false-positive rates. P-value based meta-analysis of summary results from allele-matching locus-wide tests outperforms collapsing approaches. We conclude that current strategies for the combination of genetic association data in the presence of allelic heterogeneity are insufficiently powered.
Related Links	http://dx.doi.org/10.1038/ejhg.2011.274
Ending Page	712
Page Count	4
Starting Page	709
File Format	PDF
ISSN	10184813
e-ISSN	14765438
Journal	European Journal of Human Genetics
Issue Number	6
Volume Number	20
Language	English
Publisher	Nature Publishing Group
Publisher Date	2012-06-01
Access Restriction	Open
Rights Holder	Nature Publishing Group
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity

Power of Genetic Association Studies in the Presence of Linkage Disequilibrium and Allelic Heterogeneity

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

Allelic Heterogeneity in LINE-1 Retrotransposition Activity

The sumLINK statistic for genetic linkage analysis in the presence of heterogeneity

Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes.

Meta-Analysis of Genome-Wide Scans for Total Body BMD in Children and Adults Reveals Allelic Heterogeneity and Age-Specific Effects at the WNT16 Locus

Meta-analysis of genetic association studies under heterogeneity

Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity

An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity

Similar Documents

An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity

Power of Genetic Association Studies in the Presence of Linkage Disequilibrium and Allelic Heterogeneity

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

Allelic Heterogeneity in LINE-1 Retrotransposition Activity

The sumLINK statistic for genetic linkage analysis in the presence of heterogeneity

Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes.

Meta-Analysis of Genome-Wide Scans for Total Body BMD in Children and Adults Reveals Allelic Heterogeneity and Age-Specific Effects at the WNT16 Locus

Meta-analysis of genetic association studies under heterogeneity

Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity

An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity