A weighted accumulation test for associating rare genetic variation with quantitative phenotypes
Advanced Search
Select up to three search categories and corresponding keywords using the fields to the right. Refer to the Help section for more detailed instructions.

Search our Collections & Repository

For very narrow results

When looking for a specific result

Best used for discovery & interchangable words

Recommended to be used in conjunction with other fields

Dates

to

Document Data
Library
People
Clear All
Clear All

For additional assistance using the Custom Query please check out our Help Page

i

A weighted accumulation test for associating rare genetic variation with quantitative phenotypes

Filetype[PDF-201.94 KB]


Details Supporting Files You May Also Like

Details:

  • Alternative Title:
    BMC Proc
  • Personal Author:
  • Description:
    Currently there is a great deal of interest in developing methods for testing the role that rare variation plays in disease development. Here we propose a weighted association test that accumulates genetic variation across a signaling pathway. We evaluate our approach by analyzing simulated phenotype data from an exome sequencing study of 697 unrelated individuals from the Genetic Analysis Workshop 17 (GAW17) data set. Although our weighted approach identifies several interesting pathways associated with phenotype Q1, so does an alternative unweighted accumulation approach. Such a result is not unexpected because there is no systematic relationship between the allele frequency of a variant and its effect on phenotype in the GAW17 simulation model.
  • Subjects:
  • Source:
    BMC Proc. 2011; 5(Suppl 9):S6.
  • Document Type:
    Journal Article
  • Collection(s):
  • Main Document Checksum:
  • Download URL:
  • File Type:

You May Also Like

Checkout today's featured content at stacks.cdc.gov