Ten Simples Rules on How to Organise a Bioinformatics Hackathon

The completion of the human genome sequence triggered worldwide efforts to unravel the secrets hidden in its deceptively simple code. Numerous bioinformatics projects were undertaken to hunt for genes, predict their protein products, function and post-translational modifications, analyse protein-protein interactions, etc. Many novel analytic and predictive computer programmes fully optimised for manipulating human genome sequence data have been developed, whereas considerably less effort has been invested in exploring the many thousands of other available genomes, from unicellular organisms to plants and non-human animals. Nevertheless, a detailed understanding of these organisms can have a significant impact on human health and well-being.New advances in genome sequencing technologies, bioinformatics, automation, artificial intelligence, etc., enable us to extend the reach of genomic research to all organisms. To this aim gather, develop and implement new bioinformatics solutions (usually in the form of software) is pivotal. A helpful model, often used by the bioinformatics community, is the so-called hackathon. These are events when all stakeholders beyond their disciplines work together creatively to solve a problem. During its runtime, the consortium of the EU-funded project AllBio - Broadening the Bioinformatics Infrastructure to cellular, animal and plant science - conducted many successful hackathons with researchers from different Life Science areas. Based on this experience, in the following, the authors present a step-by-step and standardised workflow explaining how to organise a bioinformatics hackathon to develop software solutions to biological problems.

The Need for a Human Pangenome Reference Sequence

The reference human genome sequence is inarguably the most important and widely used resource in the fields of human genetics and genomics. It has transformed the conduct of biomedical sciences and brought invaluable benefits to the understanding and improvement of human health. However, the commonly used reference sequence has profound limitations, because across much of its span, it represents the sequence of just one human haplotype. This single, monoploid reference structure presents a critical barrier to representing the broad genomic diversity in the human population. In this review, we discuss the modernization of the reference human genome sequence to a more complete reference of human genomic diversity, known as a human pangenome. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

Human genome sequence: what can we get from it?

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