Neysa Njo on Muck Rack

Neysa Njo

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Articles

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies

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By Dennis Yeow, André Reis, Igor Stevanovski, Laura I. Rudaks, Bianca R Grosz, Joanne Sy, Leah Kemp, Sanjog Chintalaphani, Michael Chin, Danqing Zhu, Christina Liang, Katrina Morris, Andrew Hannaford, Ehsan Esmaili Shandiz, Kate Ahmad, Shadi El-Wahsh, Stephen W Reddel, Robert Boland-Freitas, Roula Ghaoui, Stephanie Barnes, Jonathan Sturm, Anna Willard, Mahi Jasinarachchi, Simon Hawke, Neil Simon, Lisa Worgan, David Manser, Michel Tchan, Neil Griffith, Ryan Davis, Carolyn M. Sue, Pamela A McCombe, Karl Ng, Marina L Kennerson, Pak Leng Cheong, Kishore Kumar, Ira W. Deveson, Neysa Njo, Marion Stoll
| Nature Verified
Abstract The genetic variants that cause inherited myopathies vary widely in type, size and sequence context, encompassing small sequence variants, large structural variants, repeat expansions, and more complex events, such as the D4Z4 macrosatellite contraction and hypomethylation that causes facioscapulohumeral muscular dystrophy. Many of these are challenging to characterise using next-generation sequencing and other older molecular technologies.
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