Cross-cutting methods
Cross-Cutting Methods
Shared methodology and technology serving both flagship programmes.
A shared methodological and technological layer — not a third disease programme.
2 research themes · 3 publication records · 3 projects
Theme 1
Variant Interpretation & Population Genomics
Shared interpretation methodology across both disease pillars, including classification frameworks, founder alleles and population-specific variant spectra.
Work in this theme
A seven-tier classification framework for MEFV missense variants, founder-variant analyses in the Turkish population, HFE and other population cohorts, ensemble in-silico score modelling, and penetrance and counselling analyses.
Publications (3)
A novel seven-tier framework for the classification of MEFV missense variants using adaptive and rigid classifiers
Scientific Reports · 2025
An Ensemble Model Based on Combining BayesDel and Revel Scores Indicates Outstanding Performance: Importance of Outlier Detection and Comparison of Models
Cerrahpaşa Medical Journal · 2024
Theme 2
Genomic Technologies & Translational Diagnostics
Shared technological infrastructure and assay translation, from sequencing and array platforms to targeted orthogonal methods.
Work in this theme
Next-generation sequencing, high-resolution chromosomal microarray, FISH, droplet digital PCR, Sanger sequencing, MLPA and MS-MLPA, fragment analysis, quantitative PCR, and assay development and validation work.
Publications (0)
Projects in this programme
All projectsSerotonin Transporter Gene Polymorphism in Allergic Rhinitis
Cross-cutting
Inflammation- and Autoimmunity-Related miRNA Expression in Familial Mediterranean Fever and its Relationship with MEFV Variant Groups and Clinical Severity
Cross-cutting
MCP-1 Gene Polymorphism in Obstructive Sleep Apnea Syndrome
Cross-cutting
Related clinical genomics capability
Full spectrumResearch and diagnostic service are described separately. These pages set out the department’s clinical capability and are informational only.