Search Results - "Harry Hochheiser"
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A qualitative research framework for the design of user-centered displays of explanations for machine learning model predictions in healthcare
Published in BMC medical informatics and decision making (08-10-2020)“…There is an increasing interest in clinical prediction tools that can achieve high prediction accuracy and provide explanations of the factors leading to…”
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The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
Published in Nucleic acids research (04-01-2017)“…The correlation of phenotypic outcomes with genetic variation and environmental factors is a core pursuit in biology and biomedicine. Numerous challenges…”
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Systematic discovery of the functional impact of somatic genome alterations in individual tumors through tumor-specific causal inference
Published in PLoS computational biology (01-07-2019)“…Cancer is mainly caused by somatic genome alterations (SGAs). Precision oncology involves identifying and targeting tumor-specific aberrations resulting from…”
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Prescription patterns relevant to young people with epilepsy of childbearing potential
Published in Epilepsy & behavior (01-12-2024)“…•Of 1525 female adolescents with epilepsy, only 41 % were prescribed folic acid.•24 % of those on enzyme-inducers were at risk of contraceptive failure in this…”
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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
Published in American journal of human genetics (01-09-2016)“…The interpretation of non-coding variants still constitutes a major challenge in the application of whole-genome sequencing in Mendelian disease, especially…”
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An implementation framework to improve the transparency and reproducibility of computational models of infectious diseases
Published in PLoS computational biology (01-03-2023)“…Computational models of infectious diseases have become valuable tools for research and the public health response against epidemic threats. The…”
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A retrospective textual analysis of sexual and reproductive health counseling for adolescent and young adult people with epilepsy of gestational capacity
Published in Epilepsy & behavior (01-08-2023)“…•Of 971 patients with epilepsy, 38% never had reproductive health counseling documented.•Nearly half of patient-years (49%) had no mention of reproductive…”
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DeepPhe: A Natural Language Processing System for Extracting Cancer Phenotypes from Clinical Records
Published in Cancer research (Chicago, Ill.) (01-11-2017)“…Precise phenotype information is needed to understand the effects of genetic and epigenetic changes on tumor behavior and responsiveness. Extraction and…”
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Use of Natural Language Processing to Identify Sexual and Reproductive Health Information in Clinical Text
Published in Methods of information in medicine (01-12-2023)“…This study aimed to enable clinical researchers without expertise in natural language processing (NLP) to extract and analyze information about sexual and…”
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Inter-rater reliability of the infectious disease modeling reproducibility checklist (IDMRC) as applied to COVID-19 computational modeling research
Published in BMC infectious diseases (27-10-2023)“…Infectious disease computational modeling studies have been widely published during the coronavirus disease 2019 (COVID-19) pandemic, yet they have limited…”
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Rationale and Design of the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) Study. Sarcoidosis Protocol
Published in Annals of the American Thoracic Society (01-10-2015)“…Sarcoidosis is a systemic disease characterized by noncaseating granulomatous inflammation with tremendous clinical heterogeneity and uncertain pathobiology…”
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Navigating the Phenotype Frontier: The Monarch Initiative
Published in Genetics (Austin) (01-08-2016)“…The principles of genetics apply across the entire tree of life. At the cellular level we share biological mechanisms with species from which we diverged…”
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Leveraging Eye Tracking to Prioritize Relevant Medical Record Data: Comparative Machine Learning Study
Published in Journal of medical Internet research (02-04-2020)“…Electronic medical record (EMR) systems capture large amounts of data per patient and present that data to physicians with little prioritization. Without…”
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Home-care nurses' perceptions of unmet information needs and communication difficulties of older patients in the immediate post-hospital discharge period
Published in BMJ quality & safety (01-04-2013)“…To understand home-care nurses' perceptions of the post-hospitalisation information needs and communication problems of older patients, and how these factors…”
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A Bayesian System to Detect and Track Outbreaks of Influenza-Like Illnesses Including Novel Diseases: Algorithm Development and Validation
Published in JMIR public health and surveillance (13-08-2024)“…Background The early identification of outbreaks of both known and novel influenza-like illnesses (ILIs) is an important public health problem. Objective…”
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Dynamic Query Tools for Time Series Data Sets: Timebox Widgets for Interactive Exploration
Published in Information visualization (01-04-2004)“…Timeboxes are rectangular widgets that can be used in direct-manipulation graphical user interfaces (GUIs) to specify query constraints on time series data…”
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Scenario design for infectious disease projections: Integrating concepts from decision analysis and experimental design
Published in Epidemics (01-06-2024)“…Across many fields, scenario modeling has become an important tool for exploring long-term projections and how they might depend on potential interventions and…”
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Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery
Published in Human mutation (01-10-2015)“…ABSTRACT The Matchmaker Exchange application programming interface (API) allows searching a patient's genotypic or phenotypic profiles across clinical sites,…”
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Disease insights through cross-species phenotype comparisons
Published in Mammalian genome (01-10-2015)“…New sequencing technologies have ushered in a new era for diagnosis and discovery of new causative mutations for rare diseases. However, the sheer numbers of…”
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The US COVID-19 and Influenza Scenario Modeling Hubs: Delivering long-term projections to guide policy
Published in Epidemics (01-03-2024)“…Between December 2020 and April 2023, the COVID-19 Scenario Modeling Hub (SMH) generated operational multi-month projections of COVID-19 burden in the US to…”
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