Reclassified ClinVar variants based on high MAF in the SHGP database despite low MAF in public databases. (PDF 127 kb
Table S3. Random common variants matched by region to the pathogenic variants from Table S2. (XLSX 2...
Table S1. Primers, PCR conditions, fragment sizes and screening methods for LEP, MC4R, MRAP2 and BDN...
DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process...
Reclassified ClinVar variants based on MAF of 0.01 threshold and lack of phenotype in homozygotes. (...
Reclassified HGMD variants based on high MAF in the SHGP database despite low MAF in public database...
Table S1. List of genes present in P1, P2, P3 and P4 cxSVs). Table S2. Complex SVs breakpoint detail...
ClinVar Accession ID of the variants generated in the given study. The variants identified through S...
Table S4. Validation set including a “positive” set of 70 SNVs in non-coding regions of protein-codi...
Figure S1. cxSV analysis workflow. Figure S2. cxSV models for P4. Figure S3. Quality control results...
ClinVar Accession ID of the variants generated in the given study. The variants identified through S...
Table S4. Enrichment of AD-risk variants at H4K3me3 peaks from Roadmap Epigenomics Consortium data. ...
List of the 430 genes investigated in the couples. Additional file listing the 430 genes for severe ...
Additional file 1: Table S1. Clinical and Genetic Characteristics of the 109-Patient Exome Dataset. ...
List of clinically relevant transcripts for hereditary cancer, PCD, and cardiology genes. For each g...
Table S4. List of ClinVar, IARC-TP53, and CADD damaging germline variants used. (XLS 836Â kb
Table S3. Random common variants matched by region to the pathogenic variants from Table S2. (XLSX 2...
Table S1. Primers, PCR conditions, fragment sizes and screening methods for LEP, MC4R, MRAP2 and BDN...
DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process...
Reclassified ClinVar variants based on MAF of 0.01 threshold and lack of phenotype in homozygotes. (...
Reclassified HGMD variants based on high MAF in the SHGP database despite low MAF in public database...
Table S1. List of genes present in P1, P2, P3 and P4 cxSVs). Table S2. Complex SVs breakpoint detail...
ClinVar Accession ID of the variants generated in the given study. The variants identified through S...
Table S4. Validation set including a “positive” set of 70 SNVs in non-coding regions of protein-codi...
Figure S1. cxSV analysis workflow. Figure S2. cxSV models for P4. Figure S3. Quality control results...
ClinVar Accession ID of the variants generated in the given study. The variants identified through S...
Table S4. Enrichment of AD-risk variants at H4K3me3 peaks from Roadmap Epigenomics Consortium data. ...
List of the 430 genes investigated in the couples. Additional file listing the 430 genes for severe ...
Additional file 1: Table S1. Clinical and Genetic Characteristics of the 109-Patient Exome Dataset. ...
List of clinically relevant transcripts for hereditary cancer, PCD, and cardiology genes. For each g...
Table S4. List of ClinVar, IARC-TP53, and CADD damaging germline variants used. (XLS 836Â kb
Table S3. Random common variants matched by region to the pathogenic variants from Table S2. (XLSX 2...
Table S1. Primers, PCR conditions, fragment sizes and screening methods for LEP, MC4R, MRAP2 and BDN...
DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process...
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