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Pacific Symposium on Biocomputing 2017 : Kohala Coast, Hawaii, USA, 4-8 January 2017 / edited by Russ B. Altman ... [et al.]. -- Boca Raton, FL ; London : CRC Press, 2017 .—(58.1057/P117/2017)

Contents

Preface  vii

COMPUTATIONAL APPROACHES TO UNDERSTANDING THE EVOLUTION OF MOLECULAR FUNCTION

Session Introduction  1

Identification and Analysis of Bacterial Genomic Metabolic Signatures

When should we NOT transfer functional annotation between sequence paralog$ ?

ProSNet: integrating homology with molecular networks for protein function prediction  27

On the power and limits of sequence similarity based clustering of proteins into families  39

IMAGING GENOMICS

Session Introduction

Adaptive testing of SNP-brain functional connectivity association via a modular network analysis  58

Exploring Brain Transcriptomic Patterns: A Topological Analysis Using Spatial Expression Networks 70

Integrative Analysis for Lung Adenocarcinoma Predicts Morphological Features Associated with Genetic Variations  82

Identification of Discriminative Imaging Proteomics Associations in Alzheimer's Disease via a Novel Sparse Correlation Model  94

Enforcing Co-expression in Multimodal Regression Framework  105

METHODS TO ENSURE THE REPRODUCIBILITY OF BIOMEDICAL RESEARCH

Session Introduction  117

Exploring the Reproducibility of Probabilistic Causal Molecular Network Models  120

Reproducible Drug Repurposing: When Similarity Does Not Suffice  132

Empowering Multi-Cohort Gene Expression Analysis to Increase Reproducibility  144

Rabix: An Open-Source Workflow Executor Supporting Recomputability and Interoperability of

Work: flow Descriptions  154

Data Sharing and Reproducible Clinical Genetic Testing: Successes and Challenges  166

PATTERNS IN BIOMEDICAL DATA-HOW DO WE FIND THEM?

Session Introduction  177

Learning Attributes of Disease Progression from Trajectories of Sparse Lab Values  184

Computer Aided Image Segmentation and Classification for Viable and Non-Viable Tumor Identification in Osteosarcoma  195

Missing Data Imputation in the Electronic Health Record Using Deeply Learned Autoencoders  207

A Deep Learning Approach for Cancer Detection and Relevant Gene Identification  219

Development and Performance of Text-Mining Algorithms to Extract Socioeconomic Status from De-Identified Electronic Health Records  230

Genome-Wide Interaction with Selected Type 2 Diabetes Loci Reveals Novel Loci for Type 2 Diabetes in African Americans  242

Deep Motif Dashboard: Visualizing and Understanding Genomic Sequences Using Deep Neural Networks    254

Meta-Analysis of Continuous Phenotypes Identifies a Gene Signature that Correlates with COPD Disease Status  266

Predictive Modeling of Hospital Readmission Rates Using Electronic Medical Record-Wide Machine Learning: A Case-Study Using Mount Sinai Heart Failure Cohort  276

Learning Parsimonious Ensembles for Unbalanced Computational Generates Problems  288

Methods for Clustering Time Series Data Acquired from Mobile Health Apps  300

A New Relevance Estimator for the Compilation and Visualization of Disease Patterns and Potential Drug Targets  312

Network Map of Adverse Health Effects Among Victims of Intimate Partner Violence  324

Discovery of Functional and Disease Pathways by Community Detection in Protein-Protein Interaction Networks    336

PRECISION MEDICINE: DATA AND DISCOVERY FOR IMPROVED HEALTH AND THERAPY

Session Introduction  348

Opening the Door to the Large Scale Use of Clinical Lab Measures for Association Testing: Exploring Different Methods for Defining Phenotypes  356

A Powerful Method for Including Genotype Uncertainty in Tests of Hardy-Weinberg Equilibrium  368

Temporal Order of Disease Pairs Affects Subsequent Disease Trajectories: The Case of Diabetes and Sleep Apnea  380

MicroRNA-Augmented Pathways (mirAP) and Their Applications to Pathway Analysis and Disease Subtyping  390

Frequent Subgraph Mining of Personalized Signaling Pathway Networks Groups Patients with Frequently Dysregulated Disease Pathways and Predicts prognosis  402

Human Kinases Display Mutational Hotspots at Cognate Positions Within Cancer  414

MUSE: A Multi-locus Sampling-based Epistasis Algorithm for Quantitative Genetic Trait Prediction  426

ceRNA Search Method Identified a MET-activated Subgroup Among EGFR DNA Amplified Lung Adenocarcinoma Patients  438

Improved Performance of Gene Set Analysis on Genome-Wide Transcriptomics Data when Using Gene Activity State Estimates  449

methylDMV: Simultaneous Detection of Differential DNA Methylation and Variability with Confounder Adjustment  461

Identify Cancer Driver Genes Through Shared Mendelian Disease Pathogenic Variants and Cancer Somatic Mutations  473

Identifying Cancer Specific Metabolic Signatures Using Constraint-Based Models  485

Differential Pathway Dependency Discovery Associated with Drug Response across Cancer Cell Lines  497

A Methylation-to-Expression Feature Model for Generating Accurate Prognostic Risk Scores and Identifying Disease Targets in Clear Cell Kidney Cancer  509

De Novo Mutations in Autism Implicate the Synaptic Elimination Network

Identifying Genetic Associations with Variability in Metabolic Health and Blood Count Laboratory Values: Diving into the Quantitative Traits by Leveraging Longitudinal Data from an EHR  533

Strategies for Equitable Pharmacogenomic-Guided Warfarin Dosing Among European and African American Individuals in a Clinical Population

SINGLE-CELL ANALYSIS AND MODELLING OF CELL POPULATION

Session Introduction  557

Production of a Preliminary Quality Control Pipeline for Single Nuclei RNA-Seq and Its Application in the Analysis of Cell Type Diversity of Post-Mortem Human Brain Neocortex  564

Tracing Co-Regulatory Network Dynamics in Noisy, Single-Cell Transcriptome Trajectories  576

An Updated Debarcoding Tool for Mass Cytometry with Cell Type-Specific and Cell Sample-Specific Stringency Adjustment  588

Mapping Neuronal Cell Types Using Integrative Multi-Species Modeling of Human and Mouse Single Cell RNA Sequencing  599

A Spatiotemporal Model to Simulate Chemotherapy Regimens for Heterogeneous Bladder Cancer Metastases to the Lung  611

Scalable Visualization for High-dimensional Single-cell Data  623

WORKSHOPS

Harnessing Big Data for Precision Medicine: Infrastructures and Applications  635

The Training of Next Generation Data Scientists in Biomedicine  640

No-Boundary Thinking in Bioinformatics  646

Open Data for Discovery Science  649