Published May 29, 2018
| Version v1
Journal article
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Quick DNA analysis of patient samples with artificial intelligence
Description
The human genome contains millions of genetic variants that make each individual unique. Some variants affect eye colour or blood type and others affect hereditary diseases. The DNA sequence may also include a pathogenic sequence variant that causes various disruptions in the function of the gene. The disruptions manifest themselves as hereditary diseases. Blueprint Genetics from Finland classifies genetic variants found in the genome from patient samples and analyses their connection to the described symptoms of the patients.
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Additional details
Funding
- ELIXIR Finland node - European life science infrastructure for biological information 292265
- Research Council of Finland