Search filters

List of works by Chris Bizon

A Biomedical Knowledge Graph System to Propose Mechanistic Hypotheses for Real-World Environmental Health Observations: Cohort Study and Informatics Application

scientific article published on 27 April 2021

A Simple Standard for Sharing Ontological Mappings (SSSOM)

preprint published on 15 December 2021

A novel approach for exposing and sharing clinical data: the Translator Integrated Clinical and Environmental Exposures Service

scientific article published on 01 October 2019

AI Tool with Active Learning for Detection of Rural Roadside Safety Features

scientific article published in 2021

An informatics approach to analyzing the incidentalome

scientific article published on 20 September 2012

Application of MCAT questions as a testing tool and evaluation metric for knowledge graph–based reasoning systems

scientific article published on 20 March 2021

Association and ancestry analysis of sequence variants in ADH and ALDH using alcohol-related phenotypes in a Native American community sample

scientific article

Association of Predicted Expression and Multimodel Association Analysis of Substance Abuse Traits

scientific article published in 2022

Association of Protein Function-Altering Variants With Cardiometabolic Traits: The Strong Heart Study

scientific article published in 2021

Association of protein function-altering variants with cardiometabolic traits: the strong heart study

scientific article published in 2022

Biolink Model: A Universal Schema for Knowledge Graphs in Clinical, Biomedical, and Translational Science ⬇️

scientific article

COVID-19 Knowledge Extractor (COKE): A Curated Repository of Drug-Target Associations Extracted from the CORD-19 Corpus of Scientific Publications on COVID-19

publication published in 2021

COVID-KOP: Integrating Emerging COVID-19 Data with the ROBOKOP Database

scientific article published on 11 November 2020

ClinGen Allele Registry links information about genetic variants

scientific article published in November 2018

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

scientific article published on 12 January 2017

ClinGen advancing genomic data-sharing standards as a GA4GH driver project

scientific article published on 01 November 2018

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

scientific article published on 29 November 2019

Defining clinical outcome pathways

scientific article published in June 2022

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

scientific article published in February 2018

Dug: a semantic search engine leveraging peer-reviewed knowledge to query biomedical data repositories

scientific article published in 2022

Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on Alcohol Use and Antisocial Behavior

scientific article published on 01 November 2019

Enabling Longitudinal Exploratory Analysis of Clinical COVID Data

scientific article published in 2021

Fine mapping and identification of serum urate loci in American Indians: The Strong Heart Family Study

scientific article published on 29 November 2019

Genetic loci for alcohol-related life events and substance-induced affective symptoms: indexing the "dark side" of addiction

Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence

scientific article published on 25 April 2017

Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings

scientific article

Germline mutations in HOXB13 and prostate-cancer risk

scientific article

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

scientific article published on 22 April 2015

Imputation of coding variants in African Americans: better performance using data from the exome sequencing project

scientific article

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

scientific article published in PLoS ONE

Low-cost Access to the Deep, High-cadence Sky: the Argus Optical Array

scientific article published in 2022

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

scientific article published on March 2011

Patient Electronic Health Data–Driven Approach to Clinical Decision Support ⬇️

scientific article published on October 1, 2011

Polygenic risk scores for cigarettes smoked per day do not generalize to a Native American population.

scientific article published on 10 August 2016

Pre-calculated protein structure alignments at the RCSB PDB website

scientific article published in December 2010

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

scientific article published in 2021

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

scientific article published on 18 May 2017

Progress toward a universal biomedical data translator

publication published in 2022

ROBOKOP KG and KGB: Integrated Knowledge Graphs from Federated Sources

scientific article published on 12 December 2019

ROBOKOP: an abstraction layer and user interface for knowledge graphs to support question answering

scientific article published on 01 December 2019

ReQON: a Bioconductor package for recalibrating quality scores from next-generation sequencing data

scientific article

Shocks in supersonic sand

scientific article published on 17 December 2001

Variant calling in low-coverage whole genome sequencing of a Native American population sample

scientific article published on 30 January 2014

VisualDecisionLinc: A visual analytics approach for comparative effectiveness-based clinical decision support in psychiatry ⬇️

scientific article published on September 20, 2011

Visualization Environment for Federated Knowledge Graphs: Development of an Interactive Biomedical Query Language and Web Application Interface

scientific article published on 23 November 2020

Whole genome sequence study of cannabis dependence in two independent cohorts

scientific article published on 23 January 2017

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

scientific article

Paulina is supported by:

About Paulina

Help