http://www.ucsf.edu/sites/default/files/legacy_files/documents/new-taxonomy.pdf I see this as an instance of use cases and scenarios in which SolrSherlock, indeed, any DeepQA platform can add value.
A preprint of the book, online as a PDF file.
Final version of the book is available for download at http://www.nap.edu/catalog.php?record_id=13284
(thanks to Patrick Dursuau for spotting that link)
"The Committee’s charge was to explore the feasibility and need for “a New Taxonomy of human disease based on molecular biology” and to develop a potential framework for creating one. Clearly, the motivation for this study is the explosion of molecular data on humans, particularly those associated with individual patients, and the sense that there are large, as-yet untapped opportunities to use these data to improve health outcomes. The Committee agreed with this perspective and, indeed, came to see the challenge of developing a New Taxonomy of Disease as just one element, albeit an important one, in a truly historic set of health-related challenges and opportunities associated
with the rise of data-intensive biology and rapidly expanding knowledge of the mechanisms of fundamental biological processes. Hence, many of the implications of the Committee’s findings and
recommendations ramify far beyond the science of disease classification and have substantial implications for nearly all stakeholders in the vast enterprise of biomedical research and patient care."