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American Journal of Medical Genetics. Part A
|
September 19, 2025
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S Arterbery, et al.
Genome Medicine
|
April 28, 2022
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing
Daniel Danis, Julius O B Jacobsen, Parithi Balachandran, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 7, 2024
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
Justin T Reese, Leonardo Chimirri, Yasemin Bridges, et al.
American Journal of Human Genetics
|
August 7, 2020
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
Peter N Robinson, Vida Ravanmehr, Julius O B Jacobsen, et al.
Scientific Data
|
February 8, 2025
An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets
Adam S L Graefe, Miriam R Hübner, Filip Rehburg, et al.
Current Protocols in Human Genetics
|
September 4, 2019
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics
Sebastian Köhler, N Christine Øien, Orion J Buske, et al.
Plos One
|
May 17, 2023
Phenopacket-tools: Building and validating GA4GH Phenopackets
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, et al.
Advanced Genetics (Hoboken, N.J.)
|
March 13, 2023
GA4GH Phenopackets: A Practical Introduction
Markus S Ladewig, Julius O B Jacobsen, Alex H Wagner, et al.
European Journal of Human Genetics : EJHG
|
February 24, 2026
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
Justin T Reese, Leonardo Chimirri, Yasemin Bridges, et al.
Human Genetics
|
January 3, 2024
Predicting the impact of rare variants on RNA splicing in CAGI6
Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, et al.
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Search research articles
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Showing results (21-30 of 44) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
September 19, 2025
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S Arterbery, et al.
Genome Medicine
|
April 28, 2022
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing
Daniel Danis, Julius O B Jacobsen, Parithi Balachandran, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 7, 2024
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
Justin T Reese, Leonardo Chimirri, Yasemin Bridges, et al.
American Journal of Human Genetics
|
August 7, 2020
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
Peter N Robinson, Vida Ravanmehr, Julius O B Jacobsen, et al.
Scientific Data
|
February 8, 2025
An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets
Adam S L Graefe, Miriam R Hübner, Filip Rehburg, et al.
Current Protocols in Human Genetics
|
September 4, 2019
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics
Sebastian Köhler, N Christine Øien, Orion J Buske, et al.
Plos One
|
May 17, 2023
Phenopacket-tools: Building and validating GA4GH Phenopackets
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, et al.
Advanced Genetics (Hoboken, N.J.)
|
March 13, 2023
GA4GH Phenopackets: A Practical Introduction
Markus S Ladewig, Julius O B Jacobsen, Alex H Wagner, et al.
European Journal of Human Genetics : EJHG
|
February 24, 2026
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
Justin T Reese, Leonardo Chimirri, Yasemin Bridges, et al.
Human Genetics
|
January 3, 2024
Predicting the impact of rare variants on RNA splicing in CAGI6
Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, et al.
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of 5