Detection of clonal hematopoiesis of indeterminate potential via genome or exome sequencing underestimates disease associations
Robert Corty, Yash Pershad, J. Brett Heimlich, Caitlyn Vlasschaert, Leo Luo, Taralynn Mack, Kaushik Amancherla, Cassianne Robinson-Cohen, Michael Savona, Alexander G. Bick
Robert Corty, Yash Pershad, J. Brett Heimlich, Caitlyn Vlasschaert, Leo Luo, Taralynn Mack, Kaushik Amancherla, Cassianne Robinson-Cohen, Michael Savona, Alexander G. Bick
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Research Letter Aging Genetics

Detection of clonal hematopoiesis of indeterminate potential via genome or exome sequencing underestimates disease associations

Abstract

Authors

Robert Corty, Yash Pershad, J. Brett Heimlich, Caitlyn Vlasschaert, Leo Luo, Taralynn Mack, Kaushik Amancherla, Cassianne Robinson-Cohen, Michael Savona, Alexander G. Bick

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Figure 1

Performance characteristics of genome-sequencing–based CHIP calling and impact on epidemiologic associations.

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Performance characteristics of genome-sequencing–based CHIP calling and ...
Performance of genome-sequencing–based CHIP detection compared with deep sequencing, stratified by VAF for (A) sensitivity and (B) positive predictive value. Simulated CHIP-disease associations using logistic regression across odds ratios, with minimum VAF thresholds of 0.02, 0.05, and 0.1 using deep-sequencing–based CHIP detection for (C) statistical power and (D) odds ratio estimation. Simulated CHIP-disease associations instead using genome-sequencing–based CHIP detection for (E) statistical power and (F) odds ratio estimation.