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Article

Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis.

PLoS computational biology - 1 May 2020

Brucker Amanda, Lu Wenbin, Marceau West Rachel, Yu Qi-You, Hsiao Chuhsing Kate, Hsiao Tzu-Hung, Lin Ching-Heng, Magnusson Patrik K E, Sullivan Patrick F, Szatkiewicz Jin P, Lu Tzu-Pin, Tzeng Jung-Ying

Abstract excerpt

Copy number variants (CNVs) are the gain or loss of DNA segments in the genome that can vary in dosage and length. CNVs comprise a large proportion of variation in human genomes and impact health conditions. To detect rare CNV associations, kernel-based methods have been shown to be a powerful tool due to their flexibility in modeling the aggregate CNV effects, their ability to capture effects from different CNV...

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PMID: 32365089
DOI: 10.1371/journal.pcbi.1007797
PMCID: PMC7224564

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