Abstract Number:
3306
Submission Type:
Contributed Abstract
Contributed Abstract Type:
Poster
Participants:
Yaqin Si (1), Wenbin Lu (1), Albert Tucci (1), Hui Wang (2), Yuhuan Cheng (1), Li-San Wang (2), Gerard Schellenberger (2), Wan-Ping Lee (2), Jung-Ying Tzeng (1)
Institutions:
(1) North Carolina State University, NC, (2) Perelman School of Medicine, University of Pennsylvania, PA
Co-Author(s):
Hui Wang
Perelman School of Medicine, University of Pennsylvania
Li-San Wang
Perelman School of Medicine, University of Pennsylvania
Wan-Ping Lee
Perelman School of Medicine, University of Pennsylvania
First Author:
Yaqin Si
North Carolina State University
Presenting Author:
Abstract Text:
CNVs are DNA gains or losses involving ≥50 base pairs. Estimating CNV association effects requires considering a few factors, e.g., 1) variations in CNV dosage and length need to be accounted for; and 2) all CNVs in a genomic region should be jointly assessed. Here we propose a penalized regression model for CNV association analysis. We model an individual's CNVs as a piecewise constant curve to naturally capture CNV length and dosage. To jointly model all CNVs in a genomic region, we use Lasso penalty to select CNVs associated with the outcome and integrate a weighted fusion penalty to encourage similar effects of adjacent CNVs when supported by the data. Our simulations show that the proposed model can more effectively identify causal CNVs without introducing additional false positives compared to the baseline methods (Lasso and gBridge); and yield more precise effect size estimation in different simulation settings. In the real data application to identify CNVs associated with Alzheimer's Disease (AD), the CNVs identified by our methods overlap genes that are significantly enriched in pathways related to neuron structure and neuron function and yield higher predictive accuracy.
Keywords:
Penalized Regression|Association|Weighted Fusion|Lasso|Effect estimation|Copy number variants
Sponsors:
Section on Statistics in Genomics and Genetics
Tracks:
Miscellaneous
Can this be considered for alternate subtype?
Yes
Are you interested in volunteering to serve as a session chair?
Yes
I have read and understand that JSM participants must abide by the Participant Guidelines.
Yes
I understand that JSM participants must register and pay the appropriate registration fee by June 1, 2024. The registration fee is non-refundable.
I understand