Crowdsourced direct-to-consumer genomic analysis of a family quartet
Posted on 2015-11-07 - 05:00
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 (âthe Corpasomeâ) 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.
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Corpas, Manuel; Valdivia-Granda, Willy; Torres, Nazareth; Greshake, Bastian; Coletta, Alain; Knaus, Alexej; et al. (2016). Crowdsourced direct-to-consumer genomic analysis of a family quartet. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.3642020.v1
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AUTHORS (19)
MC
Manuel Corpas
WV
Willy Valdivia-Granda
NT
Nazareth Torres
BG
Bastian Greshake
AC
Alain Coletta
AK
Alexej Knaus
AH
Andrew Harrison
MC
Mike Cariaso
FM
Federico Moran
FN
Fiona Nielsen
DS
Daniel Swan
DW
David Weiss SolĂs
PK
Peter Krawitz
FS
Frank Schacherer
PS
Peter Schols
HY
Huangming Yang
PB
Pascal Borry
GG
Gustavo Glusman
PR
Peter Robinson