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Fig. 1 | Genome Medicine

Fig. 1

From: The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

Fig. 1

Key components of WGS supporting the core steps of genetic disease diagnosis. The top row of boxes represents the core steps involved in genetic disease diagnosis using clinical WGS. The second row highlights the key topics that are both associated with each step and where the Medical Genome Initiative observed limited or nonexistent clinical standards relevant to each topic

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Genome Medicine

ISSN: 1756-994X

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