Publications by authors named "Alex Wagner"

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GREGoR: accelerating genomics for rare diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Alex H Wagner

Nature· November 2025

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Mondo: Integrating Disease Terminology Across Communities.
Nicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, Joseph E Flack, Kathleen R Mullen, Alex H Wagner

Genetics· October 2025

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CIViC MCP: Integrating Large Language Models with the Clinical Interpretations of Variants in Cancer.
Lars Schimmelpfennig, Quentin Cody, Joshua McMichael, Adam C Coffman, Jason Saliba, Alex Wagner

bioRxiv· October 2025

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Taming the reference genome jungle: the refget sequence collection standard.
Donald R Campbell, Timothee Cezard, Sveinung Gundersen, Andrew D Yates, Robert M Davies, Alex H Wagner

bioRxiv· October 2025

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Improving the FAIRness and Sustainability of the NHGRI Resources Ecosystem.
Larry Babb, Carol Bult, Vincent J Carey, Robert J Carroll, Benjamin C Hitz, Alex Wagner

ArXiv· August 2025

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Mapping MAVE data for use in human genomics applications.
Jeremy A Arbesfeld, Estelle Y Da, James S Stevenson, Kori Kuzma, Anika Paul, Alex H Wagner

Genome Biol· June 2025

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HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.
Reece K Hart, Ivo F A C Fokkema, Marina DiStefano, Ros Hastings, Jeroen F J Laros, Alex H Wagner

Genome Med· December 2024

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GREGoR: Accelerating Genomics for Rare Diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Alex H Wagner

ArXiv· December 2024

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AI-readiness for Biomedical Data: Bridge2AI Recommendations.
Timothy Clark, Harry Caufield, Jillian A Parker, Sadnan Al Manir, Edilberto Amorim, Alex Wagner

bioRxiv· November 2024

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Mapping MAVE data for use in human genomics applications.
Jeremy A Arbesfeld, Estelle Y Da, James S Stevenson, Kori Kuzma, Anika Paul, Alex H Wagner

bioRxiv· June 2024

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Minimum information and guidelines for reporting a multiplexed assay of variant effect.
Melina Claussnitzer, Victoria N Parikh, Alex H Wagner, Jeremy A Arbesfeld, Carol J Bult

Genome Biol· April 2024

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DGIdb 5.0: rebuilding the drug-gene interaction database for precision medicine and drug discovery platforms.
Matthew Cannon, James Stevenson, Kathryn Stahl, Rohit Basu, Adam Coffman, Alex H Wagner

Nucleic Acids Res· January 2024

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Normalization of drug and therapeutic concepts with Thera-Py.
Matthew Cannon, James Stevenson, Kori Kuzma, Susanna Kiwala, Jeremy L Warner, Alex H Wagner

JAMIA Open· December 2023

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Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants.
Robert Dolin, Bret S E Heale, Rohan Gupta, Carla Alvarez, Justin Aronson, Alex Wagner

Learn Health Syst· October 2023

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Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.
Melina Claussnitzer, Victoria N Parikh, Alex H Wagner, Jeremy A Arbesfeld, Carol J Bult

ArXiv· June 2023

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Phenopacket-tools: Building and validating GA4GH Phenopackets.
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith

PLoS One· May 2023

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CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.
Kilannin Krysiak, Arpad M Danos, Jason Saliba, Joshua F McMichael, Adam C Coffman, Alex H Wagner

Nucleic Acids Res· January 2023

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Development and application of a computable genotype model in the GA4GH Variation Representation Specification.
Wesley Goar, Lawrence Babb, Srikar Chamala, Melissa Cline, Robert R Freimuth, Alex H Wagner

Pac Symp Biocomput· December 2022

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Accessing clinical-grade genomic classification data through the ClinGen Data Platform.
Karen P Dalton, Heidi L Rehm, Matt W Wright, Mark E Mandell, Kilannin Krysiak, Alex H Wagner

Pac Symp Biocomput· December 2022

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Genomic architecture of FGFR2 fusions in cholangiocarcinoma and its implication for molecular testing.
Olaf Neumann, Timothy C Burn, Michael Allgäuer, Markus Ball, Martina Kirchner, Alex H Wagner

Br J Cancer· November 2022

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Leveraging a pharmacogenomics knowledgebase to formulate a drug response phenotype terminology for genomic medicine.
Yiqing Zhao, Matthew Brush, Chen Wang, Alex H Wagner, Hongfang Liu

Bioinformatics· November 2022

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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Peter Horak, Malachi Griffith, Arpad M Danos, Beth A Pitel, Subha Madhavan, Alex H Wagner

Genet Med· September 2022

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The GA4GH Phenopacket schema defines a computable representation of clinical data.
Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran, Alex H Wagner

Nat Biotechnol· June 2022

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A community approach to the cancer-variant-interpretation bottleneck.
Kilannin Krysiak, Arpad M Danos, Susanna Kiwala, Joshua F McMichael, Adam C Coffman, Alex H Wagner

Nat Cancer· May 2022

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