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