7 research outputs found
Additional file 7: Figure S4. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
Variant filtering flowchart. We detected an average of 4,942,809 coding and non-coding variants per affected member of the family. Sixteen variants with MAF <0.1% in the Icelandic population (MAF derived from 30,067 Icelandic genomes) were shared by the three affected. Out of the 16 variants, one was private to the affected family members. (DOCX 41 kb
Additional file 6: Supplementary Information. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
Detailed description of methods (sample preparation, whole-genome sequencing, alignment, variant calling and annotation) and the genetic analysis performed in this study (Additional file 10: Table S5). (DOCX 23 kb
La Charente
13 février 18851885/02/13 (A14,N4636)-1885/02/13.Appartient à l’ensemble documentaire : PoitouCh
Additional file 1: Figure S1. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
Lung biopsy section from the index case (II-3) stained with hematoxylin and eosin. Mild interstitial lymphoid infiltrate and multiple foci of lymphoid hyperplasia. (DOCX 579 kb
La Charente
04 juillet 18821882/07/04 (A11,N4689)-1882/07/04.Appartient à l’ensemble documentaire : PoitouCh
Additional file 3: of Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6
Video S1. (Quicktime) Video to illustrate the DORV phenotype finding in an Adamts6 mutant heart. (MOV 1983 kb
Additional file 2: of Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6
Figure S1. Manhattan plot for European and African-American ancestry single variant analysis. Figure S2. Quantile-quantile plot for European and African-American ancestry single variant analysis. Figure S3. Manhattan plot for EA single variant analysis. Figure S4. QQ plot for EA single variant analysis. Figure S5. Manhattan plot for AA single variant analysis. Figure S6. Quantile-quantile plot for AA single variant analysis. Figure S7. Miami plot European and African-American ancestry sex-stratified single variant analysis. Figure S8. Quantile-quantile plots for European and African-American ancestry sex-stratified single variant analyses. Figure S9. Normal morphology of adult Adamts6 heterozygous hearts. (DOCX 4290 kb