13052_2020_860_MOESM1_ESM.docx (22.99 kB)
Additional file 1 of Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
journal contribution
posted on 2020-07-07, 05:07 authored by Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti, Duccio Maria Cordelli, Pasquale StrianoAdditional file 1: Supplementary Table 1. Full list of the 283 genes included in the ‘Beyond Paediatric Epilepsy Panel’ version used for this study. Abbreviations: MQ, mapping quality score UCSC, University of California Santa Cruz genome browser. Supplementary Table 2. Variants of unknown significance identified in this study. Abbreviations: AD, autosomal dominant; AR, autosomal recessive; CADD, Combined Annotation Dependent Depletion; F, female; HEM, hemizygous; HET, heterozygous; M, male; SIFT, Sorting Intolerant From Tolerant; VUS, variants of unknown significance; XL, X-linked.