RareBoost: A Research-Integrated Program for Rare and Undiagnosed Diseases in Türkiye

Abstract excerpt

<title>Abstract</title> <p>Background Advanced genomic sequencing has improved rare disease (RD) diagnostics, yet many patients remain undiagnosed despite extensive molecular testing. Increasingly, the major challenge lies not in data generation, but in the integration and reinterpretation of clinical and genomic information over time. Here, we describe RareBoost (RB), a research-integrated framework for unresol...

Topics

Open a Topic to create a Post that cites this publication.

• BRCA gene mutations in cancer
• Computational Biology
• DiGeorge Syndrome
• Genetic factors in colorectal cancer
• Genomic variations and chromosomal abnormalities
• Genomics and Rare Diseases
• Phenotype
• Rare Diseases

Identifiers and source

Literature Corpus work

69941b63-5582-5385-9e7e-22a8c712a156

DOI

10.21203/rs.3.rs-9790284/v1