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 Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background Next-generation sequencing technology is changing the genomic research due to its huge sequencing capacity which is used to identify rare susceptibility variants that affect complex diseases. Because of its high cost, a twostage extreme phenotype sequencing (TS-EPS) design is an alternative approach [1] in which the genetic variants are discovered by whole-genome or whole-exome sequencing individuals with extreme phenotypes in stage I and the association variants are detected by sequencing a large number of individuals on the discovered variants in stage II. TS-EPS can efficiently discover more than half of the causal variants using about 0.2% of all individuals [2] and can therefore have higher power than random sampling given the sample size and effect sizes of the causal variants [2,3]. Using simulated data for unrelated individuals, we further explore the efficiency of TS-ESP in term of different sample sizes and varying effect sizes.

Power and sample size of two-stage extreme phenotype sequencing design for next generation sequencing studies