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Gila Yanai Lithwick on Muck Rack

Gila Yanai Lithwick

As seen in: The American Journal of Human Genetics
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Articles

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

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By Sen Zhao, Jefferson Sinson, Jill A. Rosenfeld, Gladys E. Zapata, Kristína Macáková, Mezthly Pena, Becky Maywald, Kim C. Worley, Lindsay C. Burrage, Monika Weisz-Hubshman, Shamika Ketkar, Lisa Emrick, Tyson A. Clark, Zohar Shipony, Christine M. Eng, Brendan Lee, Pengfei Liu, William Craigen, Gila Yanai Lithwick
| The American Journal of Human Genetics Verified
Keywords ultra-deep RNA sequencing clinical RNA sequencing deep sequencing Mendelian disorders sequencing depth Ultima Genomics minimum required sequencing depth clinically accessible tissues splicing variants variants of uncertain significance Get full text access Log in, subscribe or purchase for full access. References 1. Linderman, M.D. ∙ Brandt, T. ∙ Edelmann, L. ... Analytical validation of whole exome and whole genome sequencing for clinical applications BMC Med. Genomics. 2014; 7:20 2.
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