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|Alternative name||Clinical Genomic Database|
|Restrictions to use||None|
- Homo sapiens
- person_outline Benjamin D. Solomon
Publication for Clinical Genomic Database
Genes Regulated by Vitamin D in Bone Cells Are Positively Selected in East Asians
[…] Inheritance in Man (OMIM http://omim.org), overlap with any variant trait associations with p-value 5.0 X 10–8 in the Genome Wide Association Studies catalogue (http://www.genome.gov/gwastudies) and Clinical Genomic Database (CGD), to understand the potential biological basis for selection. CGD is a manually curated database that includes ~2,700 genes causing human diseases culled from OMIM and t […]
Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck
[…] MD and Hearing Loss, with a total of 60 genes in ESP (72 in 1KG) after removing overlap, referred to as “Combined”. To assemble a larger, though noisier gene set, we use all annotated AR genes in the Clinical Genomic Database, referred to as “CGD”, which contains 1268 genes in ESP and 1348 genes in 1KG . […]
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing
[…] house annotation interface tool with information from numerous databases such as ClinVar (www.ncbi.nlm.nih.gov/clinvar/), Polyphen-2 (Adzhubei et al. ), FATHMM (Shihab et al. ), SIFT (Kumar et al. ), Clinical Genomic Database (Solomon et al. ), and The National Heart, Lung, and Blood Institute’s GO Exome Sequencing Project (ESP) (ESP ). Allele counts from ExAC (Exome_Aggregation_Consortium ) and C […]
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