Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network
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Genome annotation for clinical genomic diagnostics: strengths and weaknesses
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Genomic diagnosis for children with intellectual disability and/or developmental delay
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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, et al. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. American Journal of Human Genetics. 2017. 100 (5) : 695—705.

Bridging the gap: the need for genomic and clinical -omics data integration and standardization in overcoming the bottleneck of variant interpretation
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