NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

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Nonsense mutations (NM) are single base substitutions that introduce a premature stop codon. There are 5218 single gene disorders and traits (OMIM), and neuromuscular disorders (NMD) represent ̴ 9% of all known Mendelian phenotypes. We present the most frequent NM that produce an NMD, in the clinical realm; as an initial step to analyze the potential benefit of emerging nonsense readthrough therapies. Accessing the free-open-database of ClinVar, a tool to facilitate the evaluation of variation-phenotype relationships, we were able to download data submitted by 17 different laboratories offering diagnostic testing for clinical purposes, across NA and Europe, which were trusted and major contributors to ClinVar.

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