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Poison Exon Annotations Improve the Yield of Clinically Relevant Variants in Genomic Diagnostic Testing.

Stephanie A. Felker,James M. J. Lawlor,Susan M. Hiatt,Michelle L. Thompson,Donald R. Latner,Candice R. Finnila,Kevin M. Bowling,Zachary T. Bonnstetter,Katherine E. Bonini,Nicole R. Kelly,Whitley V. Kelley,Anna C. E. Hurst,Salman Rashid,Melissa A. Kelly,Ghunwa Nakouzi,Laura G. Hendon,E. Martina Bebin,Eimear E. Kenny,Gregory M. Cooper

GENETICS IN MEDICINE（2023）

Cited 5|Views44
Key words
genome annotation,Exome Sequencing,sequence variation
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