A sample variant input file for ClinLabGeneticist. Table S2. Variant annotation databases and features. Table S3. Summary statistic of variant review process for the three case studies. Table S4. Variant list for case 1. Table S5. Variant list for case 2. Table S6. Variant list for case 3. (XLSX 42 kb
Summary of the 131 targeted genes. The “Gene symbol”, “Accession number”, “Size of gene (bp)”, “Size...
Table S4. List of ClinVar, IARC-TP53, and CADD damaging germline variants used. (XLS 836Â kb
List of 22 genes associated with monogenic forms of diabetes that were analyzed in this paper. Table...
Histograms of the allele counts of NMDpositive variants in the ExAC dataset for (A) BRCA1 and (B) BR...
Additional file 1: Table S1. Clinical and Genetic Characteristics of the 109-Patient Exome Dataset. ...
Figure S1. Bioinformatics workflow for detecting pathogenic variants. Variants are first binned into...
Table S4. List of the 192 additional variants that matched the filter criteria (variants in addition...
Additional file 1: Supplementary Tables. Collection of small supplementary tables (S1-2,4-5,7-8,11-1...
Estimate of the practical impact in clinical diagnostics of using methods of different sensitivity a...
Allele frequency cut-offs for autosomal dominant disorders for various database sizes and disease pr...
Validated exomes with definitive diagnosis. Table S2. GenIO performance comparison. (DOCX 77 kb
GAVIN gene-specific thresholds used in the benchmark. This table can be used to look up thresholds o...
Table S1. The sensitivity and specificity of GRIPT with CADD and other tests under the AR and AD mod...
Additional variants in the couples. Additional file describing additional possibly pathogenic varian...
Table S6. List of patients with two variants in the same gene (based on the list of 192 variants and...
Summary of the 131 targeted genes. The “Gene symbol”, “Accession number”, “Size of gene (bp)”, “Size...
Table S4. List of ClinVar, IARC-TP53, and CADD damaging germline variants used. (XLS 836Â kb
List of 22 genes associated with monogenic forms of diabetes that were analyzed in this paper. Table...
Histograms of the allele counts of NMDpositive variants in the ExAC dataset for (A) BRCA1 and (B) BR...
Additional file 1: Table S1. Clinical and Genetic Characteristics of the 109-Patient Exome Dataset. ...
Figure S1. Bioinformatics workflow for detecting pathogenic variants. Variants are first binned into...
Table S4. List of the 192 additional variants that matched the filter criteria (variants in addition...
Additional file 1: Supplementary Tables. Collection of small supplementary tables (S1-2,4-5,7-8,11-1...
Estimate of the practical impact in clinical diagnostics of using methods of different sensitivity a...
Allele frequency cut-offs for autosomal dominant disorders for various database sizes and disease pr...
Validated exomes with definitive diagnosis. Table S2. GenIO performance comparison. (DOCX 77 kb
GAVIN gene-specific thresholds used in the benchmark. This table can be used to look up thresholds o...
Table S1. The sensitivity and specificity of GRIPT with CADD and other tests under the AR and AD mod...
Additional variants in the couples. Additional file describing additional possibly pathogenic varian...
Table S6. List of patients with two variants in the same gene (based on the list of 192 variants and...
Summary of the 131 targeted genes. The “Gene symbol”, “Accession number”, “Size of gene (bp)”, “Size...
Table S4. List of ClinVar, IARC-TP53, and CADD damaging germline variants used. (XLS 836Â kb
List of 22 genes associated with monogenic forms of diabetes that were analyzed in this paper. Table...