Low budget analysis of Direct-To-Consumer genomic testing familial data [v1; ref status: indexed, http://f1000r.es/Nmz0oW]
Direct-to-consumer (DTC) genetic testing is a recent commercial endeavor that allows the general public to access personal genomic data. The growing availability of personal genomic data has in turn stimulated the development of non-commercial tools for DTC data analysis. Despite this new wealth of...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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F1000 Research Ltd
2012-07-01
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| Series: | F1000Research |
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| Online Access: | http://f1000research.com/articles/1-3/v1 |
| _version_ | 1818282970517078016 |
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| author | Gustavo Glusman Mike Cariaso Rafael Jimenez Daniel Swan Bastian Greshake Jong Bhak Darren W Logan Manuel Corpas |
| author_facet | Gustavo Glusman Mike Cariaso Rafael Jimenez Daniel Swan Bastian Greshake Jong Bhak Darren W Logan Manuel Corpas |
| author_sort | Gustavo Glusman |
| collection | DOAJ |
| description | Direct-to-consumer (DTC) genetic testing is a recent commercial endeavor that allows the general public to access personal genomic data. The growing availability of personal genomic data has in turn stimulated the development of non-commercial tools for DTC data analysis. Despite this new wealth of public resources, no systematic research has been carried out to assess these tools for interpretation of DTC data. Here, we provide an initial analysis benchmark in the context of a whole family, using single nucleotide polymorphism (SNP) data. Five blood-related DTC SNP chip data tests were analyzed in conjunction with one whole exome sequence. We report findings related to genomic similarity between individuals, genetic risks and an overall assessment of data quality; thus providing an evaluation of the current potential of public domain analysis tools for personal genomics. We envisage that as the use of personal genome tests spreads to the general population, publicly available tools will have a more prominent role in the interpretation of genomic data in the context of health risks and ancestry. |
| first_indexed | 2024-12-13T00:29:28Z |
| format | Article |
| id | doaj.art-40fb1245db594f24b5969b6bfcee1ce3 |
| institution | Directory Open Access Journal |
| issn | 2046-1402 |
| language | English |
| last_indexed | 2024-12-13T00:29:28Z |
| publishDate | 2012-07-01 |
| publisher | F1000 Research Ltd |
| record_format | Article |
| series | F1000Research |
| spelling | doaj.art-40fb1245db594f24b5969b6bfcee1ce32022-12-22T00:05:21ZengF1000 Research LtdF1000Research2046-14022012-07-01110.12688/f1000research.1-3.v1103Low budget analysis of Direct-To-Consumer genomic testing familial data [v1; ref status: indexed, http://f1000r.es/Nmz0oW]Gustavo Glusman0Mike Cariaso1Rafael Jimenez2Daniel Swan3Bastian Greshake4Jong Bhak5Darren W Logan6Manuel Corpas7Institute for Systems Biology, 401 Terry Avenue North, Seattle, WA 98109-5234, USARiver Road Bio LLC, Potomac, MD 20854-3976, USAEuropean Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UKOxford Gene Technology, Begbroke Science Park, Begbroke, Oxfordshire, OX5 1PF, UKMolecular Ecology Group, Biodiversity and Climate Research Centre, Frankfurt am Main, Senckenberganlage 25, D-60325, GermanyTheragen BiO Institute, TheragenEtex Inc, AICT building, Lui-dong, Youngtong-gu, Suwon 443-370, Korea, SouthWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UKThe Genome Analysis Centre, Norwich Research Park, Norwich, NR4 7UH, UKDirect-to-consumer (DTC) genetic testing is a recent commercial endeavor that allows the general public to access personal genomic data. The growing availability of personal genomic data has in turn stimulated the development of non-commercial tools for DTC data analysis. Despite this new wealth of public resources, no systematic research has been carried out to assess these tools for interpretation of DTC data. Here, we provide an initial analysis benchmark in the context of a whole family, using single nucleotide polymorphism (SNP) data. Five blood-related DTC SNP chip data tests were analyzed in conjunction with one whole exome sequence. We report findings related to genomic similarity between individuals, genetic risks and an overall assessment of data quality; thus providing an evaluation of the current potential of public domain analysis tools for personal genomics. We envisage that as the use of personal genome tests spreads to the general population, publicly available tools will have a more prominent role in the interpretation of genomic data in the context of health risks and ancestry.http://f1000research.com/articles/1-3/v1BioinformaticsGenomicsMedical Genetics |
| spellingShingle | Gustavo Glusman Mike Cariaso Rafael Jimenez Daniel Swan Bastian Greshake Jong Bhak Darren W Logan Manuel Corpas Low budget analysis of Direct-To-Consumer genomic testing familial data [v1; ref status: indexed, http://f1000r.es/Nmz0oW] F1000Research Bioinformatics Genomics Medical Genetics |
| title | Low budget analysis of Direct-To-Consumer genomic testing familial data [v1; ref status: indexed, http://f1000r.es/Nmz0oW] |
| title_full | Low budget analysis of Direct-To-Consumer genomic testing familial data [v1; ref status: indexed, http://f1000r.es/Nmz0oW] |
| title_fullStr | Low budget analysis of Direct-To-Consumer genomic testing familial data [v1; ref status: indexed, http://f1000r.es/Nmz0oW] |
| title_full_unstemmed | Low budget analysis of Direct-To-Consumer genomic testing familial data [v1; ref status: indexed, http://f1000r.es/Nmz0oW] |
| title_short | Low budget analysis of Direct-To-Consumer genomic testing familial data [v1; ref status: indexed, http://f1000r.es/Nmz0oW] |
| title_sort | low budget analysis of direct to consumer genomic testing familial data v1 ref status indexed http f1000r es nmz0ow |
| topic | Bioinformatics Genomics Medical Genetics |
| url | http://f1000research.com/articles/1-3/v1 |
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