Corominas Galbany

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Genome sequencing as a generic diagnostic strategy for rare disease - Genome Medicine

Feb 14, 2024 |

By den Ouden, van Reeuwijk, Su Ming, Corominas Galbany

| Genome Medicine

We retrospectively selected archival residual DNA material from a cohort (n = 1000) with known clinically relevant variants (n = 1271) from genome diagnostic laboratories of the Radboudumc in Nijmegen and the MUMC + in Maastricht.

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Genome sequencing as a generic diagnostic strategy for rare disease - Genome Medicine

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