Efficient Identification of Equivalences in Dynamic Graphs and Pedigree Structures

We propose a new framework for designing test and query functions for complex structures that vary across a given parameter such as genetic marker position. The operations we are interested in include equality testing, set operations, isolating unique states, duplication counting, or finding equivalence classes under identifiability constraints. A motivating application is locating equivalence classes in identity-by-descent (IBD) graphs, graph structures in pedigree analysis that change over genetic marker location. The nodes of these graphs are unlabeled and identified only by their connecting edges, a constraint easily handled by our approach. The general framework introduced is powerful enough to build a range of testing functions for IBD graphs, dynamic populations, and other structures using a minimal set of operations. The theoretical and algorithmic properties of our approach are analyzed and proved. Computational results on several simulations demonstrate the effectiveness of our approach.Comment: Code for paper available at http://www.stat.washington.edu/~hoytak/code/hashreduc

A pattern-based approach to a cell tracking ontology

Time-lapse microscopy has thoroughly transformed our understanding of biological motion and developmental dynamics from single cells to entire organisms. The increasing amount of cell tracking data demands the creation of tools to make extracted data searchable and interoperable between experiment and data types. In order to address that problem, the current paper reports on the progress in building the Cell Tracking Ontology (CTO): An ontology framework for describing, querying and integrating data from complementary experimental techniques in the domain of cell tracking experiments. CTO is based on a basic knowledge structure: the cellular genealogy serving as a backbone model to integrate specific biological ontologies into tracking data. As a first step we integrate the Phenotype and Trait Ontology (PATO) as one of the most relevant ontologies to annotate cell tracking experiments. The CTO requires both the integration of data on various levels of generality as well as the proper structuring of collected information. Therefore, in order to provide a sound foundation of the ontology, we have built on the rich body of work on top-level ontologies and established three generic ontology design patterns addressing three modeling challenges for properly representing cellular genealogies, i.e. representing entities existing in time, undergoing changes over time and their organization into more complex structures such as situations

A comparative approach to the implementation of drug pedigree discovery systems

Thesis (M. Eng.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 2007.Includes bibliographical references (p. 69-70).As the use of RFID technology penetrates and reforms the supply-chain industry, standards are being produced at all levels of the RFID technology spectrum, ranging from hardware to software. The Electronic Product Code (EPC) standard uniquely identifies RFID-tagged products. An application that supports the usage of EPCs is an Electronic Drug Pedigree (E-Pedigree), which is a historical record that indicates the chain of custody of a particular drug product being passed from one supply-chain partner to another. In order to fully implement track-and-trace of pharmaceutical products, software systems need to be built so that pedigree documents can be effectively stored and searched. In this Thesis, two approaches that address the issue of pedigree document discovery are presented-one centralized, one decentralized. The centralized pedigree discovery service extracts metadata from pedigree documents submitted to a centralized server and uses them in a search engine, such as Google Base, to located desired documents that match client queries. The decentralized service allows pedigree documents to be stored locally by individual business owners. Each local server is attached to a Discovery Service Unit containing metadata of local pedigree documents, and these units communicate with each other to form a network. Both approaches are implemented as Web Services.by Indy Yu.M.Eng

e-Social Science and Evidence-Based Policy Assessment : Challenges and Solutions

Peer reviewedPreprin

An Architecture for Provenance Systems

This document covers the logical and process architectures of provenance systems. The logical architecture identifies key roles and their interactions, whereas the process architecture discusses distribution and security. A fundamental aspect of our presentation is its technology-independent nature, which makes it reusable: the principles that are exposed in this document may be applied to different technologies

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

BACKGROUND: Ehlers Danlos Syndrome is a rare form of inherited connective tissue disorder, which primarily affects skin, joints, muscle, and blood cells. The current study aimed at finding the mutation that causing EDS type VII C also known as "Dermatosparaxis" in this family. METHODS: Through systematic data querying of the electronic medical records (EMRs) of over 80,000 individuals, we recently identified an EDS family that indicate an autosomal dominant inheritance. The family was consented for genomic analysis of their de-identified data. After a negative screen for known mutations, we performed whole genome sequencing on the male proband, his affected father, and unaffected mother. We filtered the list of non-synonymous variants that are common between the affected individuals. RESULTS: The analysis of non-synonymous variants lead to identifying a novel mutation in the ADAMTSL2 (p. Gly421Ser) gene in the affected individuals. Sanger sequencing confirmed the mutation. CONCLUSION: Our work is significant not only because it sheds new light on the pathophysiology of EDS for the affected family and the field at large, but also because it demonstrates the utility of unbiased large-scale clinical recruitment in deciphering the genetic etiology of rare mendelian diseases. With unbiased large-scale clinical recruitment we strive to sequence as many rare mendelian diseases as possible, and this work in EDS serves as a successful proof of concept to that effect

Semantic Systems. The Power of AI and Knowledge Graphs

This open access book constitutes the refereed proceedings of the 15th International Conference on Semantic Systems, SEMANTiCS 2019, held in Karlsruhe, Germany, in September 2019. The 20 full papers and 8 short papers presented in this volume were carefully reviewed and selected from 88 submissions. They cover topics such as: web semantics and linked (open) data; machine learning and deep learning techniques; semantic information management and knowledge integration; terminology, thesaurus and ontology management; data mining and knowledge discovery; semantics in blockchain and distributed ledger technologies