International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

This is an interesting trend in comparison with a recent analysis of all of OMIM’s data, which demonstrated that nearly 25% of all genes associated with Mendelian disease underlie two or more clinically distinct disorders. 8 Since the introduction of WES, many RGDs that were previously intractable to conventional gene-discovery approaches, largely because they were associated with a substantially reduced reproductive fitness, have been found to be caused by de novo pathogenic variants or to exhibit high allelic or locus heterogeneity.

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