title: Low budget analysis of Direct-To-Consumer genomic testing familial data.
abstract: 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.
authors.affiliation: Institute for Systems Biology, 401 Terry Avenue North, Seattle, WA 98109-5234, USA.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Glusman
authors.affiliation: River Road Bio LLC, Potomac, MD 20854-3976, USA.
authors.forename: Mike
authors.initials: M
authors.lastname: Cariaso
authors.affiliation: European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
authors.forename: Rafael
authors.initials: R
authors.lastname: Jimenez
authors.affiliation: Oxford Gene Technology, Begbroke Science Park, Begbroke, Oxfordshire, OX5 1PF, UK.
authors.forename: Daniel
authors.initials: D
authors.lastname: Swan
authors.affiliation: Molecular Ecology Group, Biodiversity and Climate Research Centre, Frankfurt am Main, Senckenberganlage 25, D-60325, Germany.
authors.forename: Bastian
authors.initials: B
authors.lastname: Greshake
authors.affiliation: Theragen BiO Institute, TheragenEtex Inc, AICT building, Lui-dong, Youngtong-gu, Suwon 443-370, Korea, South.
authors.forename: Jong
authors.initials: J
authors.lastname: Bhak
authors.affiliation: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
authors.forename: Darren W
authors.initials: DW
authors.lastname: Logan
authors.affiliation: The Genome Analysis Centre, Norwich Research Park, Norwich, NR4 7UH, UK.
authors.forename: Manuel
authors.initials: M
authors.lastname: Corpas