Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants

Eirwen M. Miller, Nicole E. Patterson, Jenna Marcus Zechmeister, Michal Bejerano-Sagie, Maria Delio, Kunjan Patel, Nivedita Ravi, Wilber Quispe-Tintaya, Alexander Maslov, Nichelle Simmons, Maria Castaldi, Jan Vijg, Rouzan G. Karabakhtsian, John M. Greally, Dennis Y.S. Kuo, Cristina Montagna

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Medicine & Life Sciences