title: Crowdsourced direct-to-consumer genomic analysis of a family quartet.
abstract: BACKGROUND
  We describe the pioneering experience of a Spanish family pursuing the goal of understanding their own personal genetic data to the fullest possible extent using Direct to Consumer (DTC) tests. With full informed consent from the Corpas family, all genotype, exome and metagenome data from members of this family, are publicly available under a public domain Creative Commons 0 (CC0) license waiver. All scientists or companies analysing these data ("the Corpasome") were invited to return results to the family.
  
  
  METHODS
  We released 5 genotypes, 4 exomes, 1 metagenome from the Corpas family via a blog and figshare under a public domain license, inviting scientists to join the crowdsourcing efforts to analyse the genomes in return for coauthorship or acknowldgement in derived papers. Resulting analysis data were compiled via social media and direct email.
  
  
  RESULTS
  Here we present the results of our investigations, combining the crowdsourced contributions and our own efforts. Four companies offering annotations for genomic variants were applied to four family exomes: BIOBASE, Ingenuity, Diploid, and GeneTalk. Starting from a common VCF file and after selecting for significant results from company reports, we find no overlap among described annotations. We additionally report on a gut microbiome analysis of a member of the Corpas family.
  
  
  CONCLUSIONS
  This study presents an analysis of a diverse set of tools and methods offered by four DTC companies. The striking discordance of the results mirrors previous findings with respect to DTC analysis of SNP chip data, and highlights the difficulties of using DTC data for preventive medical care. To our knowledge, the data and analysis results from our crowdsourced study represent the most comprehensive exome and analysis for a family quartet using solely DTC data generation to date.
authors.affiliation: The Genome Analysis Centre, Norwich Research Park, Norwich, UK. manuel.corpas@tgac.ac.uk.
authors.forename: Manuel
authors.initials: M
authors.lastname: Corpas
authors.affiliation: Orion Integrated Biosciences Inc., POX 028, Larchmont, NY, 10538, USA. willy.valdivia@orionbio.com.
authors.forename: Willy
authors.initials: W
authors.lastname: Valdivia-Granda
authors.affiliation: Universidad de Navarra, Grupo de Fisiología del Estrés en Plantas (Dpto. de Biología Ambiental), Pamplona, Spain. ntorres@alumni.unav.es.
authors.forename: Nazareth
authors.initials: N
authors.lastname: Torres
authors.affiliation: Department for Applied Bioinformatics, Institute for Cell Biology and Neuroscience, Goethe University, Frankfurt am Main, Germany. bgreshake@googlemail.com.
authors.forename: Bastian
authors.initials: B
authors.lastname: Greshake
authors.affiliation: InSilico Genomics S.A., Avenue Adolphe Buyl, 87, Building C, 5th floor, B-1050, Brussels, Belgium. alaincoletta@insilicodb.com.|Institut de Recherches Interdisciplinaires et de Developpements en Intelligence Artificielle, the Computer and Decision Engineering Department, Universite Libre de Bruxelles, 87 av. Adolphe Buyl, Bruxelles, 1050, Belguim. alaincoletta@insilicodb.com.
authors.forename: Alain
authors.initials: A
authors.lastname: Coletta
authors.affiliation: Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany. alexej.knaus@gmail.com.
authors.forename: Alexej
authors.initials: A
authors.lastname: Knaus
authors.affiliation: Department of Mathematical Sciences, University of Essex, Wivenhoe Park, Colchester, Essex, CO4 3SQ, UK. harry@essex.ac.uk.
authors.forename: Andrew P
authors.initials: AP
authors.lastname: Harrison
authors.affiliation: SNPedia, River Road Bio, LLC, 9812 Falls Road #114-237, Potomac, Maryland, MD, 20854, USA. cariaso@gmail.com.
authors.forename: Mike
authors.initials: M
authors.lastname: Cariaso
authors.affiliation: Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain. fmoran@ucm.es.
authors.forename: Federico
authors.initials: F
authors.lastname: Moran
authors.affiliation: DNADigest, Windsor House, Station Court, Station Road, Great Shelford, Cambridge, CB22 5NE, UK. fiona.nielsen@gmail.com.
authors.forename: Fiona
authors.initials: F
authors.lastname: Nielsen
authors.affiliation: The Genome Analysis Centre, Norwich Research Park, Norwich, UK. Daniel.Swan@tgac.ac.uk.|Oxford Gene Technology, Woodstock Road, Begbroke, Oxfordshire, OX5 1PF, UK. Daniel.Swan@tgac.ac.uk.
authors.forename: Daniel
authors.initials: D
authors.lastname: Swan
authors.affiliation: InSilico Genomics S.A., Avenue Adolphe Buyl, 87, Building C, 5th floor, B-1050, Brussels, Belgium. davidweiss@insilicodb.com.|Institut de Recherches Interdisciplinaires et de Developpements en Intelligence Artificielle, the Computer and Decision Engineering Department, Universite Libre de Bruxelles, 87 av. Adolphe Buyl, Bruxelles, 1050, Belguim. davidweiss@insilicodb.com.
authors.forename: David Y
authors.initials: DY
authors.lastname: Weiss Solís
authors.affiliation: Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany. peter.krawitz@gmail.com.|GeneTalk, Finckensteinallee 84, 12205, Berlin, Germany. peter.krawitz@gmail.com.
authors.forename: Peter
authors.initials: P
authors.lastname: Krawitz
authors.affiliation: BIOBASE, Halchtersche Strasse 33, D-38304, Wolfenbuettel, Germany. frank.schacherer@qiagen.com.
authors.forename: Frank
authors.initials: F
authors.lastname: Schacherer
authors.affiliation: Diploid Genomics, Middelweg 129, 3001, Leuven, Belgium. peter@gentlelabs.com.
authors.forename: Peter
authors.initials: P
authors.lastname: Schols
authors.affiliation: BGI, Main Building, Beishan Industrial Zone, Yantian District, Shenzhen, 518083, China. huanmingyang@gmail.com.
authors.forename: Huangming
authors.initials: H
authors.lastname: Yang
authors.affiliation: Department of Public Health and Primary Care, Catholic University of Leuven, Leuven, Belgium. pascal.borry@med.kuleuven.be.
authors.forename: Pascal
authors.initials: P
authors.lastname: Borry
authors.affiliation: The Institute for Systems Biology, 401 Terry Ave N, Seattle, WA, 98109, USA. gustavo@systemsbiology.org.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Glusman
authors.affiliation: Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany. peter.robinson@charite.de.|Berlin Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, Berlin, Germany. peter.robinson@charite.de.
authors.forename: Peter N
authors.initials: PN
authors.lastname: Robinson
mesh_terms: D063045:Crowdsourcing / Q000379:methods; D059472:Exome; D005190:Family; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods; D023281:Genomics / Q000379:methods; D005838:Genotype; D006801:Humans; D008297:Male; D054892:Metagenome; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D057285:Precision Medicine / Q000379:methods; D019655:Quantitative Trait, Heritable; D013030:Spain