ABSTRACT

The Corpasome refers to genomic data derived from the Corpas family. Manuel Corpas, who works as a genome bioinformatician, engaged on a personal journey to explore his own genome as well as that of several family members. One can download the exome from Manuel Corpas himself that was published in the 2012 F1000Res article entitled Low budget analysis of Direct-To-Consumer genomic testing familial data. The Genome in a Bottle Consortium (GIAB) is a public-private- academic consortium that aims to develop the technical infrastructure to enable WGS to become a tool for clinical practice. One of the means toward achieving that goal is to provide reference data for use in analytical validation. There are many other sources of publicly available WES and WGS data. The Sequence Read Archive (SRA) of the National Center for Biotechnology Information (NCBI) [206] and the European Genome- phenome Archive (EGA) [237] have large collections of data that can be downloaded for analysis.