GenRiskPro: A Comprehensive Whole-Genome Sequencing Analysis Platform for Clinical and Wellness Applications
Computational and Structural Biotechnology Journal, cilt.35, sa.2, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 35 Sayı: 2
- Basım Tarihi: 2026
- Doi Numarası: 10.34133/csbj.0011
- Dergi Adı: Computational and Structural Biotechnology Journal
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Compendex, EMBASE, INSPEC, Directory of Open Access Journals
- Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet
Özet
Despite rapid advances in whole-genome sequencing (WGS), translating genomic findings into individualized insights remains challenging.We present GenRiskPro, a clinical decision-support and research platform, which automates WGS variant calling, annotation, prioritization, and reporting to deliver actionable findings and facilitate precision wellness. (To test the GenRiskPro platform, log on to https://www.phenomeportal.org/ dashboard using the following credentials: Username: user@test.com; Password: test.) GenRiskPro integrates rare and common variant prioritization in a unified pipeline and in-house database, enabling both rare and complex disease and trait association analyses. Variant reporting is supported via LongevityCloud, which features a web portal for clinicians to review, adjust, and authorize the return of results in tabular and PDF formats, alongside a mobile app with artificial intelligence (AI) integration for sequenced individuals. Case studies using Turkish (TR, n = 275) and Swedish (SW, n = 101) WGS data assessed platform performance and variant prioritization: (a) predefined gene panels yielded a 1.82% positive rate for actionable findings per American College of Medical Genetics and Genomics (ACMG) secondary findings guidelines; (b) phenotype-driven support diagnosed cases including muscular dystrophy and microcephaly; (c) cohort-level ClinVar reassessment identified potentially misclassified pathogenic variants; (d) rare variant burden analysis revealed enrichment in ABCA4 for TR and SMPD1 in SW; and (e) population analysis highlighted carrier differences in trait-associated SNPs (rs12913832 and rs4988235) and PGx variants (CYP2B64 and CYP2B66). GenRiskPro unifies databases, literature, web development, and AI for rapid, user-friendly genomic analysis and reporting, which fosters collaboration among hospitals, researchers, clinicians, and patients.