Marketing

Donations Sought For Whole Genome Sequencing: 40 Days To Go!


I intended to post this crowdfunding proposal into Kickstarter, but unfortunately, one needs to have US residency and an US bank account, neither of which I currently have. Hence I decided to appeal through this blog.

Project title: Familial Genomic Data Analysis Using Free Tools

Analysis of the genomes of 5 blood-related individuals to demonstrate how much interpretation is possible using free software tools.

TARGET: $25,000 USD

If you PLEDGE $100 OR MORE before 29th July 2012

REWARD: 1 printed copy of the pre-publication manuscript related to research done with this data

If you PLEDGE $1,000 OR MORE before 29th July 2012

REWARD: Exclusive access to family genome data for 3 months before making it public domain

If you PLEDGE $5,000 OR MORE before 29th July 2012

REWARD: Hard drive with raw genome sequencing data for all family individuals (Limited Reward: 5 of 5 remaining)

Every contribution will be acknowledged in a blog entry once the process is completed (unless it is requested otherwise).

How to donate

If you are interested in supporting this cause you may donate via paypal to 

Please make sure you notify me using this same email address so I can reward your contribution.

Project description

Personal genomics is a promising new field that aims at delivering the benefits of genome analysis to the general population. Unfortunately the progress and general adoption of genomic analyses by the ordinary citizen has been slow up to now due to most analysis tools being commercial. This deficiency in public tools for personal genome interpretation is in part a consequence of a lack of public personal genome data with which to research and test new tools with.

Making public personal genome data available has been somewhat catalogued as ‘controversial’ due to a misplaced perception that personal genome data is more sensitive than other types of data. We believe this perceived misconception is incoherent with current trends in release of personal information through social networks. Potentially more private information can be released through Facebook than any genetic analysis could reveal. We thus intend to also confront this prejudice by providing an open source compilation of genomes for a whole family of related individuals.

Information for a whole family is much more useful than a single individual and will allow some kind of tests and analyses that single individual analyses cannot provide. This data will stimulate the study and development of new free software tools for personal genomic interpretation.

We as a family have already been very active in the personal genomics research arena, releasing our genotypes (that is the 0.03% of our genomes) to the public domain and publishing freely our experiences through a blog and scientific publications. All personal data we release counts with the informed consent of all family individuals(*). A page has been created with the genotype data for full download here:

http://manuelcorpas.com/five-family-relatives-genome-download

An example of a visualization tool that has been developed by SNPedia as a result of publishing our current family genomic information
An example of a visualization tool that has been developed by SNPedia as a result of publishing our current family genomic information

The above genomic visualization has led to the representation of the genomic data of one family member in a blanket. This blanket is now kept at the Tilburg Textile Museum in Amsterdam.

Blanket showing the genomic information of a million genetic markers for a member of the family in all chromosomes
Blanket showing the genomic information of a million genetic markers for a member of the family in all chromosomes

Two scientific publications have so far been produced describing a) a new open source genome browser for personal genomics data [1] and b) an article that describes the challenges of communicating genome analysis results to family members [2].

Purpose of fundrasing

We intend to use the money raised here to sequence the whole genomes of 5 family relatives and make the data public to the public domain. The whole family is of homogeneous 100% European ethnic background descent and has lived in Southern Spain for at least 4 generations. We will publish scientific results from our data analysis as well as any observations and experiences derived from this experiment, including those accumulated through this fundraising process. We expect that the availability of this personal genomes data will contribute to the development of personal genomics tools and hence provide a benefit to everyone interested in knowing more about his/her personal genome data.

[1] R.C. Jimenez, G.A. Salazar, B. Gel, P. Bevan, J. Dopazo, N. Mulder, M. Corpas* (2011). myKaryoView: A Light-Weight Client for Visualization of Genomic Data. PLoS ONE 6(10): e26345

[2] M. Corpas* (2012). Experiences with Personal Genetics: A Family Journey. Journal of Genetic Counseling. DOI 10.1007/s10897-011-9472-8

(*) It is our view that not even the most knowledgeable geneticist is able to offer perfect informed consent in any given analysis, so we are not claiming that our informed consent is perfect either.

Biography

Manuel Corpas is a genome bioinformatician currently leading a group that analyses plant and animal genomes at a research institute in the UK. He has previously worked on a database that collects the genomes of patients afflicted with severe genomic disorders. He holds a PhD in Bioinformatics from the University of Manchester, UK and a BSc in Biology (University of Navarre, Spain). He has been a visiting scholar at the Virginia Bioinformatics Institute and the San Diego Supercomputer Center (US). In 2004 he founded the International Society for Computational Biology (ISCB) Student Council, a leading student organization in the field. Manuel has been involved in many ISCB-related events ever since.

My Location

Norwich, UK

3 replies »

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s