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Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders

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dc.contributor.authorPérez, Eduardo
dc.contributor.authorNiestroj, Lisa
dc.contributor.authorMartínez, Miguel
dc.contributor.authorVillaman, Camilo
dc.contributor.authorIrem, Elif
dc.contributor.authorLal, Dennis
dc.contributor.authorMata, Ignacio
dc.date.accessioned2023-03-31T19:34:00Z
dc.date.available2023-03-31T19:34:00Z
dc.date.issued2022
dc.description.abstractCopy number variants (CNVs) are a major source of genetic variation in the human genome, and they are highly heterogeneous in type, size, and frequency. CNVs represent the largest portion of genomic variation between humans, and a subset of CNVs has been associated with multiple rare and common neurological disorders. Although recent sequencing-based methods deliver increased resolution and greater power in detecting CNVs, SNP genotyping microarrays still provide a scalable opportunity to analyze CNVs in large cohorts of neurological disorders. In the past 15 years, case-control genome-wide association studies and population-based biobanks have widely used SNP genotyping microarrays to understand the heritability of common variants. As a result, massive amounts of SNP microarray data are available and provide a costefficient opportunity to repurpose the data and study large and rare CNVs. Here we describe a workflow to detect and analyze CNVs from SNP genotyping microarrays. We describe established CNV quality control procedures, CNV downstream analyses, case-control burden analysis, and validation protocols with particular focus on nervous system disorders and non-European datasets.
dc.description.versionVersión publicada
dc.identifier.citationCopy number variation analysis from SNP genotyping microarrays in large cohorts of neurological disorders. Eduardo Pérez-Palma, Lisa-Marie Niestroj, Miguel Inca-Martínez, Camilo Villaman, Elif Irem Sarihan, Dennis Lal, Ignacio Mata. Book Chapter. Neuromethods. Springer Nature. DOI: 10.1007/978-1-0716-2357-2_10
dc.identifier.doihttps://doi.org/10.1007/978-1-0716-2357-2_10
dc.identifier.urihttps://repositorio.udd.cl/handle/11447/7227
dc.language.isoen
dc.subjectCopy number variation
dc.subjectCNVs
dc.subjectGenotyping
dc.subjectStructural variation
dc.subjectNeurological disorders
dc.subjectGWAS
dc.titleCopy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders
dc.typeBook chapter
dcterms.accessRightsPrivado
dcterms.sourceGenomic Structural Variants in Nervous System Disorders
dspace.entity.typePublication

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