Title
Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders
Date Issued
01 January 2022
Access level
metadata only access
Resource Type
book part
Author(s)
Pérez-Palma E.
Niestroj L.M.
Villaman C.
Sarihan E.I.
Lal D.
Mata I.
Lerner Research Institute Cleveland Clinic
Publisher(s)
Humana Press Inc.
Abstract
Copy 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 cost-efficient 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.
Start page
173
End page
195
Volume
182
Language
English
OCDE Knowledge area
NeurologÃa clÃnica
BioquÃmica, BiologÃa molecular
Genética humana
Subjects
Scopus EID
2-s2.0-85131309447
Resource of which it is part
Neuromethods
ISSN of the container
08932336
Sponsor(s)
Dr. Pérez-Palma is supported by the National Agency for Investigation and Development (ANID, PAI77200124) of Chile and the FamilieSCN2A foundation 2020 Action Potential Grant. Dr. Mata is supported by grants from the Parkinson’s Foundation, American Parkinson’s Disease Association, Michael J. Fox Foundation, and National Institutes of Health.
Michael J. Fox Foundation for Parkinson's Research MJFF
American Parkinson Disease Association APDA
Agencia Nacional de Investigación y Desarrollo PAI77200124 ANID
Sources of information:
Directorio de Producción CientÃfica
Scopus