Expanding the boundaries of RNA sequencing as a diagnostic tool for rare mendelian disease

March 5, 2019 Leave a comment 2,988 Views

Gene-panel and whole-exome analyses are now standard methodologies for mutation detection in Mendelian disease. However, the diagnostic yield achieved is at best 50%, leaving the genetic basis for disease unsolved in many individuals...

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Expanding the boundaries of RNA sequencing as a diagnostic tool for rare mendelian disease

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