Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Last updated 29th Jun 2017
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CURATOR

A pinboard by Beryl Cummings

PhD Candidate, Harvard University

PINBOARD SUMMARY

First-ever systematic use of RNA sequencing provides rare disease families with a genetic diagnosis

Rare diseases exert a massive combined burden of suffering, accounting for around 10% of child hospital admissions and one-fifth of all child deaths. For many families affected by these diseases th...