Maanik Mehta on Muck Rack

Maanik Mehta

As seen in: Nature
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Articles

A novel phenotype-guided genome analysis pipeline for variant discovery

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By Layla Ahmed, Erika Tavares, Janice Li, Kashif Ahmed, Rahma Osman, Graeme R Nimmo, Ashish R. Deshwar, Tara A. Paton, Christian R Marshall, Elise Heon, Ajoy Vincent, Maanik Mehta, Christabel Eileen, Genevieve Ah-Sen, Kit Green-Sanderson, Anna Dvaladze, Guillermo Casallo
| Nature Verified
Abstract Inherited retinal dystrophies (IRDs) are a genetically diverse group of vision loss disorders with over 360 implicated genes. However, 30-50% of cases remain unresolved after panel-based clinical testing and may benefit from exome or genome sequencing for a genetic diagnosis.
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