Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm-Reference-Cited by-同舟云学术

Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm

Published:2022-02-22 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Fujiwara Toyofumi¹^ORCID,Shin Jae‐Moon¹,Yamaguchi Atsuko²^ORCID

Affiliation:

1. Database Center for Life Science, Joint Support‐Center for Data Science Research Research Organization of Information and Systems Kashiwa‐shi Chiba‐ken Japan

2. Graduate School of Integrative Science and Engineering Tokyo City University Setagaya‐ku Tokyo Japan

Funder

Research Organization of Information and Systems

National Bioscience Database Center

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24341

Reference31 articles.

1. Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey

2. Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange

3. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

4. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

5. DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

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1. The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients;2023-11-16

2. Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking;Human Mutation;2022-05-10