3 research outputs found
Additional file 2: of Lessons learned from additional research analyses of unsolved clinical exome cases
Figures S1, S2, S3, and S4. Computational de novo variant detection from WES data, interactome analysis of USP19, AOH maps for probands with ABCA4 and FBXL4 variants and clinical whole exome management. (PDF 3462 kb
Additional file 5: Table S3. of Lessons learned from additional research analyses of unsolved clinical exome cases
Diagnostic rate differs among groups of patients with different phenotypic features. (XLSX 8 kb
Additional file 3: Table S2. of Lessons learned from additional research analyses of unsolved clinical exome cases
De novo and recessive variants in candidate or recently published genes identified by collaboration between BG and BHCMG. (XLSX 28 kb