Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge

Carraro M.;Monzon A. M.;CHIRICOSTA, LUIGI;REGGIANI, FRANCESCO;Aspromonte M. C.;Bellini M.;Pagel K.;Jiang Y.;Radivojac P.;Kundu K.;Pal L. R.;Yin Y.;Limongelli I.;Andreoletti G.;Moult J.;Wilson S. J.;Katsonis P.;Lichtarge O.;Chen J.;Wang Y.;Hu Z.;Brenner S. E.;Ferrari C.;Murgia A.;Tosatto S. C. E.;Leonardi E.

2019