Corpas Manuel, Valdivia-Granda Willy, Torres Nazareth, Greshake Bastian, Coletta Alain, Knaus Alexej, Harrison Andrew P, Cariaso Mike, Moran Federico, Nielsen Fiona, Swan Daniel, Weiss Solís David Y, Krawitz Peter, Schacherer Frank, Schols Peter, Yang Huangming, Borry Pascal, Glusman Gustavo, Robinson Peter N
The Genome Analysis Centre, Norwich Research Park, Norwich, UK.
Orion Integrated Biosciences Inc., POX 028, Larchmont, NY, 10538, USA.
BMC Genomics. 2015 Nov 7;16:910. doi: 10.1186/s12864-015-1973-7.
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.
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.
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.
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.
我们描述了一个西班牙家庭的开创性经历，该家庭致力于通过直接面向消费者（DTC）测试尽可能全面地了解自己的个人基因数据。在科尔帕斯家族完全知情同意的情况下，该家族成员的所有基因型、外显子组和宏基因组数据均根据知识共享零（CC0）公共领域许可豁免公开提供。所有分析这些数据的科学家或公司（“科尔帕索姆”）都被邀请将结果反馈给该家庭。
我们通过博客和figshare在公共领域许可下发布了科尔帕斯家族的5个基因型、4个外显子组和1个宏基因组，邀请科学家参与众包工作来分析基因组，以换取在衍生论文中的共同作者身份或致谢。通过社交媒体和直接电子邮件收集分析结果数据。
在此，我们展示我们的调查结果，结合众包贡献和我们自己的努力。四家提供基因组变异注释的公司被应用于四个家族外显子组：BIOBASE、英睿达、二倍体和基因通。从一个通用的VCF文件开始，并在从公司报告中筛选出显著结果后，我们发现所描述的注释之间没有重叠。我们还报告了对科尔帕斯家族一名成员的肠道微生物群分析。
本研究对四家DTC公司提供的一系列不同工具和方法进行了分析。结果的显著不一致反映了之前关于SNP芯片数据DTC分析的发现，并突出了使用DTC数据进行预防性医疗的困难。据我们所知，我们众包研究的数据和分析结果代表了迄今为止仅使用DTC数据生成的、针对一个四口之家最全面的外显子组和分析。
