Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Schmitz-Abe, Klaus, Li, Qifei, Rosen, Samantha M., Nori, Neeharika, Madden, Jill A., Genetti, Casie A., Wojcik, Monica H., Ponnaluri, Sadhana, Gubbels, Cynthia S., Picker, Jonathan D., O’Donnell-LuriaJournal:
European Journal of Human Genetics
DOI:
10.1038/s41431-019-0401-x
Date:
April, 2019
File:
PDF, 826 KB
2019