A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

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Figure 2.
Figure 2.

Q-Q plots of gene- and domain-level collapsing. (A) The results for a standard gene-level collapsing of 3093 cases and 8186 controls; 18,065 covered genes passed QC with more than one case or control carrier for this test. The genes with the top associations and FUS gene are labeled. The genomic inflation factor, lambda (λ), is 1.10. (B) The results for the domain-based collapsing of 3093 cases and 8186 controls; 70,603 covered domains passed QC with more than one case or control carrier for this test. The genes with the top associations are labeled and genome-wide significant genes are in bold. λ = 1.046.

This Article

  1. Published in Advance April 2, 2019, doi: 10.1101/gr.243592.118 Genome Res. 29: 809-818

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