Personal Genomes

My Family Exome Analysis: Findings

After 4 years of work, I am pleased to say that two publications have emanated from this work:

Low budget analysis of Direct-To-Consumer genomic testing familial data


Crowdsourced direct-to-consumer genomic analysis of a family quartet

I am pleased to say that the latter article has been featured by BMC Genomes as one of the most influential articles published in the journal in 2015.

You can find all of the Corpasome data in figshare. Given that the process of obtaining the data and analysing them has been incremental, there are two URLs you need to access should you want to use our genome data (released under a CC0 license).

The raw dataset for my parents and sister trio, together with the VCF file for the quartet (Mother, Father, Daughter, Son) are here:

The Son (mine) raw data is available here:

The figure below shows all the data that is available. In red I show some “anomalies” to distinguish data versions or the fact that my Aunt’s data is only 23andMe and she has sadly passed away.


Personal Genomics Zone

You may have read about the release of my raw personal exome data in a previous entry. Although users were not required to report back any finding derived from this data, my hope was that some of them would return with interesting results. The response to this call has been overwhelmingly positive and in less than a week Oxford Gene Technology (OGT) has kindly provided me with a report to facilitate the analysis of my personal exome. OGT’s donation has allowed the start of the “My Personal Exome Analysis” series in this blog. In Part I, I will be sharing some data and preliminary metrics gathered from OGT’s exome analysis services. I will continue to report further findings and insights as I keep exploring my personal exome at the deepest level that technology (and budget) currently allows.

In addition, I release under a CC0 license the following sequence-derived data from…

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