Homo sapiens Genome sequencing and assembly. Homo sapiens

We provide the raw sequencing data 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 family, all genotype, exome, whole genome and metagenome data from members of this family are publicly available on the internet under a public domain Creative Commons 0 (CC0) license waiver. Scientists and companies were invited to freely analyse the data and return results to the family. Resulting analyses were compiled via social media and direct email. We present the results of our investigations, combining the crowdsourced contributions from 7 genomics companies and more than 20 scientists. The striking discordance of results derived from the different genome interpretation methods applied to this dataset 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 genotype analysis to date for a family genome quintuplet using solely DTC means.