Use of Genomewide Association Studies to Evaluate Genetic Predisposition to Testicular Germ Cell Tumors.
Methods Mol Biol
; 2195: 189-223, 2021.
Article
em En
| MEDLINE
| ID: mdl-32852766
ABSTRACT
Genomewide association studies (GWAS) have been widely used in recent years to identify common variants that are associated with multiple types of cancer, including testicular germ cell tumors. These studies require no a priori hypotheses and have advantages, including the ability to highlight new pathways relevant to the biology of common diseases. GWAS require collection of germline DNA from individuals with and without the disease of interest. Following DNA extraction and quantification, a variety of array based platforms are available to evaluate common and moderately rare germline variation throughout the genome in an agnostic fashion. Here, we describe DNA extraction methods from samples typically used in the evaluation of germline genetic variation (blood and saliva). We also describe assays used to assess DNA quality and quantity. Finally, we include methods describing array based genotyping using the Illumina platform and validation of relevant variants using the iPLEX Agena Multiplexed Genotyping (formerly Sequenom).
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Testiculares
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Neoplasias Embrionárias de Células Germinativas
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Predisposição Genética para Doença
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Estudo de Associação Genômica Ampla
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Humans
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Male
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article