English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

In the search for genetic factors that are associated with complex heritablehuman traits, considerable attention is now being focused on rare variants thatindividually have small effects. In response, numerous recent papers haveproposed testing strategies to assess association between a group of rarevariants and a trait, with competing claims about the performance of varioustests. The power of a given test in fact depends on the nature of anyassociation and on the rareness of the variants in question. We review suchtests within a general framework that covers a wide range of genetic models andtypes of data. We study the performance of specific tests through exact orasymptotic power formulas and through novel simulation studies of over 10,000different models. The tests considered are also applied to real sequence datafrom the 1000 Genomes project and provided by the GAW17. We recommend a testingstrategy, but our results show that power to detect association in plausiblegenetic scenarios is low for studies of medium size unless a high proportion ofthe chosen variants are causal. Consequently, considerable attention must begiven to relevant biological information that can guide the selection ofvariants for testing.

Pooled Association Tests for Rare Genetic Variants: A Review and Some New Results