[PRESS RELEASE] For better diagnosis of rare/genetic diseases
EurekAlert! - https://www.eurekalert.org/news-releases/960684
PubCaseFinder v3.0.0 is abailable. We developed the new function which enable users to use the Mondo-based virtual gene panels. An example is here.
The following paper was published in the Human Mutation special issue on Matchmaker Exchange.
Toyofumi Fujiwara, Jae-Moon Shin, Atsuko Yamaguchi "Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm." Hum Mutat. 2022 Jun;43(6):734-742; DOI: 10.1002/humu.24341
PubCaseFinder v2.1.0 is abailable. Symptom input is now more convenient ('did you mean' algorithm available). Moreover, you can import Human Phenotype Ontology (HPO) term IDs to extract multiple HPO term IDs from any kind of textual input.
PubCaseFinder v2.0.0 is abailable. The UI/UX has been greatly improved. It is possible to filter the results by combining disease, mode of inheritance, and gene with logical operators. An example is here.
PubCaseFinder v1.3.0 is abailable. A ranked list of public cases on the Internet is produced based on patient phenotypes. An example is here.
PubCaseFinder v1.2.0 is abailable. A ranked list of causative genes of rare and genetic diseases is produced based on patient phenotypes. An example is here.
Our poster presentation "PubCaseFinder and PhenoTouch for differential diagnosis in rare disease." was selected as Reviewers' Choice Abstracts in ASHG2019.
PubCaseFinder v1.1.0 is abailable. Datasets and ontologies are here.
The PubCaseFinder paper is available on The American Journal of Human Genetics. Full text paper is here.
PubCaseFinder v1.0.0 has been released.