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The GA4GH Phenopacket schema defines a computable representation of clinical data
Dear everybody, I would like to point out the release of the GA4GH Phenopacket -- a new forma that provides a framework for reporting and analyzing clinical data including HPO terms. Here is the paper
Dear everybody, I would like to point out the release of the GA4GH Phenopacket -- a new forma that provides a framework for reporting and analyzing clinical data including HPO terms. Here is the paper
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By
Prof. Dr. Peter Robinson
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HPO release June 2022
Dear HPO-community, yesterday we have created the HPO release for June 2022 which contains many revisions and additions. We provide diff-reports as xls, in case you want to have a detailed view on the
Dear HPO-community, yesterday we have created the HPO release for June 2022 which contains many revisions and additions. We provide diff-reports as xls, in case you want to have a detailed view on the
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By
Sebastian
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Obsoletion notice: Bilateral external ear deformity HP:0040111
Dear HPO Users, over the next four years as a part of an NIH/NHGRI resource grant for the HPO we will be working on making the HPO better in many ways. One item will be that we will be merging some te
Dear HPO Users, over the next four years as a part of an NIH/NHGRI resource grant for the HPO we will be working on making the HPO better in many ways. One item will be that we will be merging some te
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By
Prof. Dr. Peter Robinson
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HPO release April 2022
Dear HPO community, We are happy to announce the HPO and HPOA release for April 2022 (https://github.com/obophenotype/human-phenotype-ontology/releases/tag/v2022-04-14). We have added over 100 new HPO
Dear HPO community, We are happy to announce the HPO and HPOA release for April 2022 (https://github.com/obophenotype/human-phenotype-ontology/releases/tag/v2022-04-14). We have added over 100 new HPO
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By
Sebastian
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Prenatal HPO
Dear everybody, the HPO team has been working on extensions for prenatal medicine over the last two years, and we will be submitting a review about this to AJMG by the end of April. If there is anyone
Dear everybody, the HPO team has been working on extensions for prenatal medicine over the last two years, and we will be submitting a review about this to AJMG by the end of April. If there is anyone
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By
Prof. Dr. Peter Robinson
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NOT and frequency annotations
Dear everybody, as we have progressed with adding frequency annotations to the HPO (see for instance https://hpo.jax.org/app/browse/disease/OMIM:119800), it is becoming apparent that it is difficult t
Dear everybody, as we have progressed with adding frequency annotations to the HPO (see for instance https://hpo.jax.org/app/browse/disease/OMIM:119800), it is becoming apparent that it is difficult t
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By
Prof. Dr. Peter Robinson
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HPO release 2022-02-14
Dear HPO contributors and users, the HPO team is happy to announce the "valentines day release" of HPO and HPOA (2022-02-14). We added 200 new HPO classes and revised many other HPO classes. More deta
Dear HPO contributors and users, the HPO team is happy to announce the "valentines day release" of HPO and HPOA (2022-02-14). We added 200 new HPO classes and revised many other HPO classes. More deta
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By
Sebastian
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HPO release 2021-10-10
Dear HPO Users, we have used this Sunday to release the 2021-10-10 version of HPO and the HPO-association files. We have added 57 new HPO terms with a major focus on immunology. Please find a more det
Dear HPO Users, we have used this Sunday to release the 2021-10-10 version of HPO and the HPO-association files. We have added 57 new HPO terms with a major focus on immunology. Please find a more det
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By
Sebastian
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Suggestions for more detailed onset terms
Dear HPO community, we have received a request to add subterms for "young adult onset". Different communities tend to use different cutoffs, and so I was wondering if there are any comments or suggest
Dear HPO community, we have received a request to add subterms for "young adult onset". Different communities tend to use different cutoffs, and so I was wondering if there are any comments or suggest
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By
Prof. Dr. Peter Robinson
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HPO-related job offers in the Robinson lab
The Robinson lab at the Jackson Laboratory (JAX) invites applications for -- Software Engineer -- Bioinformatician -- Postdoctoral associate -- Biocurator ...to join a highly interactive, supportive,
The Robinson lab at the Jackson Laboratory (JAX) invites applications for -- Software Engineer -- Bioinformatician -- Postdoctoral associate -- Biocurator ...to join a highly interactive, supportive,
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By
Prof. Dr. Peter Robinson
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August 2021 release of HPO
Dear HPO contributors and users, we have now release the August 2021 version of HPO. Besides other work, we have added ~100 terms for renal pathology in collaboration with Dr Avi Rosenberg and others
Dear HPO contributors and users, we have now release the August 2021 version of HPO. Besides other work, we have added ~100 terms for renal pathology in collaboration with Dr Avi Rosenberg and others
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By
Sebastian
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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
Dear friends of the HPO! This article will be of interest for anybody using HPO to annotate or analyze immunological disease: https://www.jacionline.org/article/S0091-6749(21)00732-6/fulltext best wis
Dear friends of the HPO! This article will be of interest for anybody using HPO to annotate or analyze immunological disease: https://www.jacionline.org/article/S0091-6749(21)00732-6/fulltext best wis
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By
Prof. Dr. Peter Robinson
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HPO release June 2021
Dear HPO Users, we have released a new version of HPO for June 2021 (2021-06-08). The key changes are: • 191 new HPO terms • Almost 100 changes to primary labels • Almost 500 synonym changes HPOA (the
Dear HPO Users, we have released a new version of HPO for June 2021 (2021-06-08). The key changes are: • 191 new HPO terms • Almost 100 changes to primary labels • Almost 500 synonym changes HPOA (the
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By
Sebastian
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Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable
Hi everybody, I'd like to point out a new article about collaborative work we have done the authors of this publication to improve the coverage of HPO for seizure phenotypes. https://pubmed.ncbi.nlm.n
Hi everybody, I'd like to point out a new article about collaborative work we have done the authors of this publication to improve the coverage of HPO for seizure phenotypes. https://pubmed.ncbi.nlm.n
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By
Prof. Dr. Peter Robinson
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Phenopackets version 2 is open for comment.
Dear everybody, the HPO team has been involved in the development of the Global Alliance for Genomics and Health (GA4GH) Phenopacket standard. Phenopackets can be used to report patient phenotypes usi
Dear everybody, the HPO team has been involved in the development of the Global Alliance for Genomics and Health (GA4GH) Phenopacket standard. Phenopackets can be used to report patient phenotypes usi
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By
Prof. Dr. Peter Robinson
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April 2021 release
Dear HPO Users, the April 2021 release of HPO and HPOA (disease/gene annotations) is now available at: https://hpo.jax.org/app/download/ontology and https://hpo.jax.org/app/download/annotation 57 HPO
Dear HPO Users, the April 2021 release of HPO and HPOA (disease/gene annotations) is now available at: https://hpo.jax.org/app/download/ontology and https://hpo.jax.org/app/download/annotation 57 HPO
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By
Sebastian
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Locations of HPO download files
Dear everybody, a few of the HPO project download files have moved. Please make sure you are using the persistent uniform resource locators (PURLs) as noted here: https://hpo.jax.org/app/download/onto
Dear everybody, a few of the HPO project download files have moved. Please make sure you are using the persistent uniform resource locators (PURLs) as noted here: https://hpo.jax.org/app/download/onto
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By
Prof. Dr. Peter Robinson
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February 2021 release
Dear HPO community, we have just published a new version of the Human Phenotype Ontology and the HPO-annotation (HPOA) data. In HPO we have added 279 new terms and obsoleted 5 terms. More details on t
Dear HPO community, we have just published a new version of the Human Phenotype Ontology and the HPO-annotation (HPOA) data. In HPO we have added 279 new terms and obsoleted 5 terms. More details on t
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By
Sebastian
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The Human Phenotype Ontology in 2021
Hi everybody, here is a recent update from the HPO: Köhler S, et al. The Human Phenotype Ontology in 2021. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. https://pubmed.ncbi.nlm.nih.gov/33264411/ b
Hi everybody, here is a recent update from the HPO: Köhler S, et al. The Human Phenotype Ontology in 2021. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. https://pubmed.ncbi.nlm.nih.gov/33264411/ b
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By
Prof. Dr. Peter Robinson
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December 2020 release
Dear HPO community, we are happy to announce the December 2020 release of the HPO and the disease annotation files. We have introduced 147 new HPO terms with a focus on immunology, pulmonology, kidney
Dear HPO community, we are happy to announce the December 2020 release of the HPO and the disease annotation files. We have introduced 147 new HPO terms with a focus on immunology, pulmonology, kidney
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By
Sebastian
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