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Systematic evaluation of personal genome services for Japanese individuals
- Source :
- Journal of Human Genetics. 58:734-741
- Publication Year :
- 2013
- Publisher :
- Springer Science and Business Media LLC, 2013.
-
Abstract
- Disease risk prediction (DRP) is one of the most important challenges in personal genome research. Although many direct-to-consumer genetic test (DTC) companies have begun to offer personal genome services for DRP, there is still no consensus on what constitutes a gold-standard service. Here, we systematically evaluated the distributions of DRPs from three DTC companies, that is, 23andMe, Navigenics and deCODEme, for 22 diseases using three Japanese samples. We systematically quantified and analyzed the differences between each DTC company's DRPs. Our independency test showed that the overall prediction results were correlated with each other, but not perfectly matched; less than onethird mismatching of the opposite direction occurred in eight diseases. Moreover, we found that the differences could mainly be attributed to four factors: (1) single nucleotide polymorphism (SNP) selection, (2) average risk estimation, (3) the disease risk calculation algorithm and (4) ethnicity adjustment. In particular, only 7.1% of SNPs over 22 diseases were reviewed by all three companies. Therefore, development of a universal core SNPs list for non-Caucasian samples will be important for achieving better prediction capacity for Japanese samples. This systematic methodology provides useful insights for improving the capacity of DRPs in future personal genome services.
- Subjects :
- Genome, Human
MEDLINE
Genome-wide association study
Single-nucleotide polymorphism
Biology
Bioinformatics
Polymorphism, Single Nucleotide
Risk Assessment
Genome
Personal Health Services
Asian People
Genetics
Humans
SNP
Genetic Testing
Risk assessment
Genetics (clinical)
Selection (genetic algorithm)
Personal genomics
Demography
Subjects
Details
- ISSN :
- 1435232X and 14345161
- Volume :
- 58
- Database :
- OpenAIRE
- Journal :
- Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....c74d0bbad3b0d28d9a8d526984f7f119