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| Indexado |
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| DOI | 10.1007/978-1-0716-2357-2_10 | ||
| Año | 2022 | ||
| Tipo |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
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.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Pérez-Palma, Eduardo | Hombre |
Universidad del Desarrollo - Chile
Cleveland Clinic Foundation - Estados Unidos |
| 2 | Niestroj, Lisa Marie | Mujer |
Uniklinik Köln - Alemania
|
| 3 | Inca-Martínez, Miguel | Hombre |
Cleveland Clinic Foundation - Estados Unidos
|
| 4 | Villaman, Camilo | Hombre |
Universidad Mayor - Chile
|
| 5 | Sarihan, Elif Irem | Mujer |
Cleveland Clinic Foundation - Estados Unidos
|
| 6 | Lal, Dennis | Hombre |
Cleveland Clinic Foundation - Estados Unidos
Uniklinik Köln - Alemania Broad Institute - Estados Unidos |
| 7 | Mata, Ignacio | Hombre |
Cleveland Clinic Foundation - Estados Unidos
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| Fuente |
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| National Institutes of Health |
| Michael J. Fox Foundation for Parkinson's Research |
| American Parkinson Disease Association |
| Agencia Nacional de Investigación y Desarrollo |
| National Agency for Investigation and Development |
| Parkinson’s Foundation |
| FamilieSCN2A Foundation 2020 |
| Agradecimiento |
|---|
| 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. |