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Updated: Mar 30, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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Clinical exome sequencing – Norwegian findings.
Øystein L Holla1, Øyvind L Busk1, Kristian Tveten1
1Seksjon for medisinsk genetikk Avdeling for laboratoriemedisin Sykehuset Telemark.
Summary
Diagnostic exome sequencing in Norway identified causal diagnoses for patients with rare syndromes and neurological diseases. This advanced DNA sequencing technology offers earlier diagnostic potential, though results require careful interpretation due to patient selection.
Area of Science:
- Genomics
- Medical Diagnostics
- Human Genetics
Background:
- DNA sequencing technology is transforming medical diagnostics.
- Exome sequencing allows parallel sequencing of all human genes.
- This technology, established in research, is increasingly used for diagnostics.
Purpose of the Study:
- To systematically examine initial experiences with diagnostic exome sequencing in Norway.
Main Methods:
- Retrospective observational study of exome sequencing results.
- Data collected from Telemark Hospital, Section of Medical Genetics (December 2012 - October 2014).
- Included 125 individuals from 46 families, primarily investigated for syndromes or neurological diseases.
Main Results:
- Pathogenic sequence variants detected in 15 of 46 probands.
- Variants of unknown significance found in 12 probands.
- No incidental findings were identified; these were not actively sought.
Conclusions:
- Exome sequencing can facilitate earlier causal diagnoses for patients with syndromes or neurological diseases.
- The highly selected nature of the study cohort necessitates cautious interpretation of results.
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