Lista de obras -

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

artículo científico publicado en 2021

A Simple Standard for Sharing Ontological Mappings (SSSOM)

artículo científico publicado en 2022

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

artículo científico publicado en 2012

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

artículo científico publicado en 2021

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 2022

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

artículo científico publicado en 2020

ClinGen Allele Registry links information about genetic variants

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 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

artículo científico publicado en 2021

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Germline mutations in HOXB13 and prostate-cancer risk

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado el 1 de octubre de 2011

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

artículo científico publicado en 2016

Pre-calculated protein structure alignments at the RCSB PDB website

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

Shocks in supersonic sand

artículo científico publicado en 2001

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

artículo científico publicado en 2014

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

artículo científico publicado el 20 de septiembre de 2011

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

artículo científico publicado en 2020

Whole genome sequence study of cannabis dependence in two independent cohorts

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Lista de obras de

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

A Simple Standard for Sharing Ontological Mappings (SSSOM)

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

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

An informatics approach to analyzing the incidentalome

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

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

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

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

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

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

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

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

ClinGen Allele Registry links information about genetic variants

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

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

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

Defining clinical outcome pathways

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

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

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

Enabling Longitudinal Exploratory Analysis of Clinical COVID Data

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

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

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

Germline mutations in HOXB13 and prostate-cancer risk

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

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

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

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

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

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

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

Pre-calculated protein structure alignments at the RCSB PDB website

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

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

Progress toward a universal biomedical data translator

ROBOKOP KG and KGB: Integrated Knowledge Graphs from Federated Sources

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

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

Shocks in supersonic sand

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

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

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

Whole genome sequence study of cannabis dependence in two independent cohorts

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