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Author

S. Pajusalu

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Open access Sep 2026

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

RGP demonstrates that a research-based, patient-driven remote sequencing study can effectively bridge a diagnostic gap for rare disease families underserved in current clinical care and underscores the clinical utility of GS with frequent re-analysis.

A. O'Donnell-Luria, S. DiTroia, Melanie C. O'Leary et al. · 0 citations
Open access Jul 2026

Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia

The findings highlight the value of genetic testing in identifying at-risk individuals among HFMs of BCOC patients and the expansion of HFM testing in Estonia reflects increased public awareness and clinical integration of genetic risk assessment in cancer prevention strategies.

M. Tooming, Kadri Rekker, K. Toome et al. · 0 citations

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