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Browsing Documents OpenAIRE (Open Access Infrastructure for Research in Europe) by Author "Wijngaard, Robin"

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Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Wijngaard, Robin; Laurie, Steven, 1973-; Gilissen, Christian (Nature Research, 2023)

Mobile element insertions (MEIs) are a known cause of genetic disease but have been underexplored due to technical limitations of genetic testing methods. Various bioinformatic tools have been developed to identify MEIs ...

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