Rare-variant studies to complement genome-wide association studies
A Sazonovs, JC Barrett - Annual review of genomics and human …, 2018 - annualreviews.org
Genome-wide association studies (GWASs) have revolutionized human disease genetics by
discovering tens of thousands of associations between common variants and complex …
discovering tens of thousands of associations between common variants and complex …
[HTML][HTML] 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 …
disease etiology. Although the effects of common variants have been thoroughly assessed …
Synthetic associations in the context of genome-wide association scan signals
Genome-wide association studies (GWAS) have successfully identified a large number of
genetic variants associated with complex traits, but these only explain a small proportion of …
genetic variants associated with complex traits, but these only explain a small proportion of …
[HTML][HTML] Rare variants create synthetic genome-wide associations
Genome-wide association studies (GWAS) have now identified at least 2,000 common
variants that appear associated with common diseases or related traits (http://www. genome …
variants that appear associated with common diseases or related traits (http://www. genome …
Uncovering the roles of rare variants in common disease through whole-genome sequencing
ET Cirulli, DB Goldstein - Nature Reviews Genetics, 2010 - nature.com
Although genome-wide association (GWA) studies for common variants have thus far
succeeded in explaining only a modest fraction of the genetic components of human …
succeeded in explaining only a modest fraction of the genetic components of human …
[HTML][HTML] The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease
L Moutsianas, V Agarwala, C Fuchsberger… - PLoS …, 2015 - journals.plos.org
Genome and exome sequencing in large cohorts enables characterization of the role of rare
variation in complex diseases. Success in this endeavor, however, requires investigators to …
variation in complex diseases. Success in this endeavor, however, requires investigators to …
Genome-wide association studies
A Dehghan - Genetic Epidemiology: Methods and Protocols, 2018 - Springer
Genetic association studies have made a major contribution to our understanding of the
genetics of complex disorders over the last 10 years through genome-wide association …
genetics of complex disorders over the last 10 years through genome-wide association …
A new expectation-maximization statistical test for case-control association studies considering rare variants obtained by high-throughput sequencing
D Gordon, SJ Finch, F De La Vega - Human heredity, 2011 - karger.com
Genome-wide association studies (GWAS) have been successful in identifying common
genetic variation reproducibly associated with disease. However, most associated variants …
genetic variation reproducibly associated with disease. However, most associated variants …
[HTML][HTML] Rare variant association studies: considerations, challenges and opportunities
Genome-wide association studies (GWASs) have successfully uncovered thousands of
robust associations between common variants and complex traits and diseases. Despite …
robust associations between common variants and complex traits and diseases. Despite …
[HTML][HTML] A general framework for detecting disease associations with rare variants in sequencing studies
Biological and empirical evidence suggests that rare variants account for a large proportion
of the genetic contributions to complex human diseases. Recent technological advances in …
of the genetic contributions to complex human diseases. Recent technological advances in …