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Additional file 5: Supplementary Figures. of Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Authors :
Zahir, Farah
Mwenifumbo, Jill
Chun, Hye-Jung
Lim, Emilia
Karnebeek, Clara Van
Couse, Madeline
Mungall, Karen
Lee, Leora
Makela, Nancy
Linlea Armstrong
Boerkoel, Cornelius
Langlois, Sylvie
McGillivray, Barbara
Jones, Steven
Friedman, Jan
Marra, Marco
Publication Year :
2017
Publisher :
Figshare, 2017.

Abstract

Figure S1. IGV image and Sanger verification trace files for indel in ARID1B and missense variation in UPF1. Figure S2. UK10K mutation load â counts as per variant annotation type on one patient. Figure S3. Histogram of mutation burden per patient in the UK10K cohort. Figure S4. Pathway interactions showing convergence onto UPP pathway. Figure S5. Plots for CNV distribution for two chromosomes as called by CNAseq. (DOCX 1972 kb)

Details

Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....9419f1b059cc0a63ba4b021696fef946
Full Text :
https://doi.org/10.6084/m9.figshare.c.3787337_d6