Author

S. Pajusalu

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Open access Sep 2026

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

Many individuals with rare monogenic disease remain molecularly undiagnosed due to challenges accessing genetic testing, ambiguity in interpretation of uncertain variants, and latency between novel disease-gene discovery and adoption into clinical pipelines. The Rare Genomes Project (RGP) provides a remote, research-ba...

A. O'Donnell-Luria, S. DiTroia, Melanie C. O'Leary et al. · medRxiv · 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. · Frontiers in Genetics · 0 citations