Developing Predictive Molecular Maps of Human Disease through Community-based Modeling

The failure of biology to identify the molecular causes of disease has led to disappointment in the rate of development of new medicines. By combining the power of community-based modeling with broad access to large datasets on a platform that promotes reproducible analyses we can work towards more predictive molecular maps that can deliver better therapeutics

The Use and Misuse of Biomedical Data: Is Bigger Really Better?”

Very large biomedical research databases, containing electronic health records (HER) and genomic data from millions of patients, have been heralded recently for their potential to accelerate scientific discovery and produce dramatic improvements in medical treatments. Research enabled by these databases may also lead to profound changes in law, regulation, social policy, and even litigation strategies. Yet, is “big data” necessarily better data? This paper makes an original contribution to the legal literature by focusing on what can go wrong in the process of biomedical database research and what precautions are necessary to avoid critical mistakes. We address three main reasons for a cautious approach to such research and to relying on its outcomes for purposes of public policy or litigation. First, the data contained in databases is surprisingly likely to be incorrect or incomplete. Second, systematic biases, arising from both the nature of the data and the preconceptions of investigators, are serious threats to the validity of biomedical database research, especially in answering causal questions. Third, data mining of biomedical databases makes it easier for individuals with political, social, or economic agendas to generate ostensibly scientific but misleading research findings for the purpose of manipulating public opinion and swaying policy makers. In short, this paper sheds much-needed light on the problems of credulous and uninformed uses of biomedical databases. An understanding of the pitfalls of big data analysis is of critical importance to anyone who will rely on or dispute its outcomes, including lawyers, policy makers, and the public at large. The article also recommends technical, methodological, and educational interventions to combat the dangers of database errors and abuses

Genomics, “Discovery Science,” Systems Biology, and Causal Explanation: What Really Works?

Diverse and non-coherent sets of epistemological principles currently inform research in the general area of functional genomics. Here, from the personal point of view of a scientist with over half a century of immersion in hypothesis driven scientific discovery, I compare and deconstruct the ideological bases of prominent recent alternatives, such as “discovery science,” some productions of the ENCODE project, and aspects of large data set systems biology. The outputs of these types of scientific enterprise qualitatively reflect their radical definitions of scientific knowledge, and of its logical requirements. Their properties emerge in high relief when contrasted (as an example) to a recent, system-wide, predictive analysis of a developmental regulatory apparatus that was instead based directly on hypothesis-driven experimental tests of mechanism

Mining social network data for personalisation and privacy concerns: A case study of Facebook’s Beacon

This is the post-print version of the final published paper that is available from the link below.The popular success of online social networking sites (SNS) such as Facebook is a hugely tempting resource of data mining for businesses engaged in personalised marketing. The use of personal information, willingly shared between online friends' networks intuitively appears to be a natural extension of current advertising strategies such as word-of-mouth and viral marketing. However, the use of SNS data for personalised marketing has provoked outrage amongst SNS users and radically highlighted the issue of privacy concern. This paper inverts the traditional approach to personalisation by conceptualising the limits of data mining in social networks using privacy concern as the guide. A qualitative investigation of 95 blogs containing 568 comments was collected during the failed launch of Beacon, a third party marketing initiative by Facebook. Thematic analysis resulted in the development of taxonomy of privacy concerns which offers a concrete means for online businesses to better understand SNS business landscape - especially with regard to the limits of the use and acceptance of personalised marketing in social networks

Penalized Estimation of Directed Acyclic Graphs From Discrete Data

Bayesian networks, with structure given by a directed acyclic graph (DAG), are a popular class of graphical models. However, learning Bayesian networks from discrete or categorical data is particularly challenging, due to the large parameter space and the difficulty in searching for a sparse structure. In this article, we develop a maximum penalized likelihood method to tackle this problem. Instead of the commonly used multinomial distribution, we model the conditional distribution of a node given its parents by multi-logit regression, in which an edge is parameterized by a set of coefficient vectors with dummy variables encoding the levels of a node. To obtain a sparse DAG, a group norm penalty is employed, and a blockwise coordinate descent algorithm is developed to maximize the penalized likelihood subject to the acyclicity constraint of a DAG. When interventional data are available, our method constructs a causal network, in which a directed edge represents a causal relation. We apply our method to various simulated and real data sets. The results show that our method is very competitive, compared to many existing methods, in DAG estimation from both interventional and high-dimensional observational data.Comment: To appear in Statistics and Computin

CBR and MBR techniques: review for an application in the emergencies domain

The purpose of this document is to provide an in-depth analysis of current reasoning engine practice and the integration strategies of Case Based Reasoning and Model Based Reasoning that will be used in the design and development of the RIMSAT system. RIMSAT (Remote Intelligent Management Support and Training) is a European Commission funded project designed to: a.. Provide an innovative, 'intelligent', knowledge based solution aimed at improving the quality of critical decisions b.. Enhance the competencies and responsiveness of individuals and organisations involved in highly complex, safety critical incidents - irrespective of their location. In other words, RIMSAT aims to design and implement a decision support system that using Case Base Reasoning as well as Model Base Reasoning technology is applied in the management of emergency situations. This document is part of a deliverable for RIMSAT project, and although it has been done in close contact with the requirements of the project, it provides an overview wide enough for providing a state of the art in integration strategies between CBR and MBR technologies.Postprint (published version