IDeRare: a lightweight and extensible open-source phenotype and exome analysis pipeline for germline rare disease diagnosis

Penulis: Harsono, Ivan William; Ariani, Yulia; Benyamin, Beben; Fadilah, Fadilah; Pujianto, Dwi Ari
Informasi
JurnalJAMIA Open, JAMIA open
PenerbitOxford University Press, JAMIA open 7 (2), 2024, Oxford Academic
Volume & EdisiVol. 7,Edisi 2
Halaman -
Tahun Publikasi2024
ISSN25742531
eISSN2574-2531
Jenis SumberScopus
Sitasi
Scopus: 1
Google Scholar: 1
PubMed: 1
Abstrak
Objectives: Diagnosing rare diseases is an arduous and challenging process in clinical settings, resulting in the late discovery of novel variants and referral loops. To help clinicians, we built IDeRare pipelines to accelerate phenotype-genotype analysis for patients with suspected rare diseases. Materials and Methods: IDeRare pipeline is separated into phenotype and genotype parts. The phenotype utilizes our handmade Python library, while the genotype part utilizes command line (bash) and Python script to combine bioinformatics executable and Docker image. Results: We described various implementations of IDeRare phenotype and genotype parts with real-world clinical and exome data using IDeRare, accelerating the terminology conversion process and giving insight on the diagnostic pathway based on disease linkage analysis until exome analysis and HTML-based reporting for clinicians. Conclusion: IDeRare is freely available under the BSD-3 license, obtainable via GitHub. The portability of IDeRare pipeline could be easily implemented for semi-technical users and extensible for advanced users. © 2024 The Author(s). Published by Oxford University Press on behalf of the American Medical Informatics Association.
Dokumen & Tautan

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