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List of works by Alex H Wagner

A Simple Standard for Sharing Ontological Mappings (SSSOM)

preprint published on 15 December 2021

A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data

scientific article

A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

scientific article published on 03 April 2020

Abstract 2608: Global integration of knowledgebases for clinical interpretation of cancer variants

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards

scientific article published on 01 November 2018

Biological Evidence in Adult and Adolescent Sexual Assault Cases: Timing and Relationship to Arrest

scientific article published in April 2017

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer

scientific article (publication date: 31 January 2017)

CIViC: A knowledgebase for expert-crowdsourcing the clinical interpretation of variants in cancer

CIViCpy: A Python Software Development and Analysis Toolkit for the CIViC Knowledgebase

scientific article published on 01 March 2020

Collaborative, Multidisciplinary Evaluation of Cancer Variants Through Virtual Molecular Tumor Boards Informs Local Clinical Practices

scientific article published on 01 July 2020

Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia

scientific article

Cooperative acid-base effects with functionalized mesoporous silica nanoparticles: applications in carbon-carbon bond-formation reactions.

scientific article published in July 2009

DGIdb 2.0: mining clinically relevant drug-gene interactions.

scientific article

DGIdb 3.0: a redesign and expansion of the drug-gene interaction database

scientific article published on 16 November 2017

DGIdb 5.0: rebuilding the drug–gene interaction database for precision medicine and drug discovery platforms

scientific article published on 11 November 2023

DoCM: a database of curated mutations in cancer.

scientific article

Exon-level expression profiling of ocular tissues

scientific article published on 14 March 2013

FHIR Genomics: enabling standardization for precision medicine use cases

scientific article published on 18 March 2020

GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021

GenVisR: Genomic Visualizations in R

scientific article published on 10 June 2016

GenVisR: Genomic Visualizations in R

scholarly article published 15 March 2016

Integration of the Drug-Gene Interaction Database (DGIdb 4.0) with open crowdsource efforts

scientific article published on 25 November 2020

Leveraging a pharmacogenomics knowledgebase to formulate a drug response phenotype terminology for genomic medicine

scientific article published in 2022

Mondo: Unifying diseases for the world, by the world

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

scientific article published on 04 August 2013

Normalization of drug and therapeutic concepts with Thera-Py

scientific article published on 4 October 2023

Optic nerve crush induces spatial and temporal gene expression patterns in retina and optic nerve of BALB/cJ mice

scientific article

Prioritization of retinal disease genes: an integrative approach

scientific article

Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer

scientific article published in Nature Communications

Sequencing and disease variation detection tools and techniques

Standard operating procedure for curation and clinical interpretation of variants in cancer

scientific article published on 29 November 2019

Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples

scientific article published on 05 October 2018

Standard operating procedure for somatic variant refinement of tumor sequencing data

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

scientific article published on 10 November 2021

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

scientific article

Whole-gene sequencing investigation of SAT1 in attempted suicide

scientific article published on 27 May 2016

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