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Updated: Feb 26, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetics in an isolated population like Finland: a different basis for genomic medicine?
Helena Kääriäinen1, Juha Muilu2, Markus Perola3,4,5
1National Institute for Health and Welfare, Helsinki, Finland. helena.kaariainen@thl.fi.
Abstract:
A unique genetic background in an isolated population like that of Finland offers special opportunities for genetic research as well as for applying the genetic developments to the health care. On the other hand, the different genetic background may require local attempts to develop diagnostics and treatment as the selection of diseases and mutations differs from that in the other populations. In this review, we describe the experiences of research and health care in this genetic isolate starting from the identification of specific monogenic diseases enriched in the Finnish population all the way to implementing the knowledge of the unique genetic background to genomic medicine at population level.
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