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Article

MCKAT: a multi-dimensional copy number variant kernel association test.

BMC bioinformatics - 11 Dec 2021

Maus Esfahani Nastaran, Catchpoole Daniel, Khan Javed, Kennedy Paul J

Abstract excerpt

BACKGROUND: Copy number variants (CNVs) are the gain or loss of DNA segments in the genome. Studies have shown that CNVs are linked to various disorders, including autism, intellectual disability, and schizophrenia. Consequently, the interest in studying a possible association of CNVs to specific disease traits is growing. However, due to the specific multi-dimensional characteristics of the CNVs, methods for...

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PMID: 34895138
DOI: 10.1186/s12859-021-04494-w
PMCID: PMC8666084

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