Shortening the Diagnostic Odyssey: The Role of AI in Genomic Analysis for Rare Disease Diagnosis

The diagnosis of a rare disease RD often marks the beginning of a long and arduous journey for patients and their families, a period widely known as the "Dia...

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-08-28
DOI
https://doi.org/10.5281/zenodo.17996577
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

Shortening the Diagnostic Odyssey: The Role of AI in Genomic Analysis for Rare Disease Diagnosis

www.rasitdinc.com
Zenodo (CERN European Organization for Nuclear Research)
Genomics and Rare Diseases
article

Shortening the Diagnostic Odyssey: The Role of AI in Genomic Analysis for Rare Disease Diagnosis

www.rasitdinc.com
article en

Abstract

The diagnosis of a rare disease RD often marks the beginning of a long and arduous journey for patients and their families, a period widely known as the "Dia...

Zenodo (CERN European Organization for Nuclear Research)
Design Intelligence (United States) (US)
Openalex Percentile: Top 26%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
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Shortening the Diagnostic Odyssey: The Role of AI in Genomic Analysis for Rare Disease Diagnosis — www.rasitdinc.com · Zenodo (CERN European Organization for Nuclear Research) (2025) | TGRS Research Map | TGRS