Risk Quantification of Multigenic Conditions for SNP Array Based Direct-to-Consumer Genomic Services

Autor:	Svetlana Bojić, Stefan Mandić-Rajčević
Rok vydání:	2015
Předmět:	Genetics medicine.diagnostic_test medicine SNP Single-nucleotide polymorphism Genome-wide association study Biology Tag SNP Risk assessment Genotyping 3. Good health SNP array Genetic testing
Zdroj:	Bioinformatics and Biomedical Engineering ISBN: 9783319164793 IWBBIO (2)
Popis:	Genome wide association studies (GWAS) are typically designed as case-control studies, collecting thousands of sick and healthy individuals, genotyping hundreds of thousands of SNPs, and documenting the SNPs which are more abundant in one group or the other. Direct-to-consumer genetic testing has opened the possibility for a regular person to receive data about his/her genotype, but the validity of risk assessment procedures and the final genetic risk estimate have been questioned. Many authors have discussed the advantage of use of the asymptotic Bayes factor (ABF) to measure the strength of SNP/trait associations, over the use of p-values. We propose a ABF based heuristic to filter-our and select SNP/trait associations to be used in multigenic risk assessment.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::e3ef7f8387b1bc5254e4bcc9bafc1622 https://doi.org/10.1007/978-3-319-16480-9_27 Zobrazit plný text záznamu