ClinVar is a public archive with free access to reports on the relationships between human variations and phenotypes, with supporting evidence. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific databases, UniProt, expert panels and practical guidelines. [1][2][3]
^Landrum, M.J.; Lee, J.M.; Benson, M.; Brown, G.; Chao, C.; Chitipiralla, S.; Gu, B.; Hart, J.; Hoffman, D.; Hoover, J.; Jang, W. (2016). "ClinVar: public archive of interpretations of clinically relevant variants". Nucleic Acids Research. 44 (D1): D862–D868. doi:10.1093/nar/gkv1222. PMC 4702865. PMID 26582918.
^Landrum, M. J.; Kattman, B. L. (2018). "ClinVar at five years: delivering on the promise". Human Mutation. 39 (11): 1623–1630. doi:10.1002/humu.23641. PMID 30311387. S2CID 52963829.
^Tina Hesman Saey (2018). "What genetic tests from 23andMe, Veritas and Genos really told me about my health". ScienceNews.
ClinVar is a public archive with free access to reports on the relationships between human variations and phenotypes, with supporting evidence. The database...
databases that labs use to deposit their diagnostic findings, such as ClinVar, can be used to build knowledge graphs to explore the clinical feature...
with advanced prostate cancer. Color contributes anonymized variants to ClinVar, a free database managed by the National Center for Biotechnology Information...
deleterious genetic variant prediction scores from programs such as PolyPhen, ClinVar, and CADD and annotates the SNVs, insertions, deletions, and CNVs of the...
representation of the intron-exon organization of tyrosinase (TYP) gene in humans (ClinVar: NM_ 000372). Open and closed boxes represent protein-coding and untranslated...
24 other tissues. 22 variants have been annotated in the NIH Database, ClinVar, linked to disease conditions such as seizures, developmental delay, and...
Genome project) dbSNP: The Single Nucleotide Polymorphism Database ClinVar: ClinVar archives and aggregates information about relationships among variation...
Consortium Mouse Phenome Database Online Mendelian Inheritance in Animals ClinVar Mendelian Inheritance in Man ORPHANET Protein ANalysis THrough Evolutionary...
initiation context of the start codon indicate purifying selection 41 Clinvar variants that affect the ORF-Y peptide but not the amino acid sequence...
Linnaeus (as var.? persicifolium) Solanum chrysotrichum of von Schlechtendal (as var. pleiotomum) Solanum ferrugineum (as var. ferrugineum, var. hartwegianum)...
main varieties of cultivated C. endivia chicon: Curly endive, or frisée (var. crispum). This type has narrow, green, curly outer leaves. It is sometimes...
species (Humulus lupulus) are: H. l. var. lupulus – Europe, western Asia H. l. var. cordifolius – eastern Asia H. l. var. lupuloides (syn. H. americanus)...
variance Var ( T ) = ( Var ( x 1 ) + Var ( x 2 ) + ⋯ + Var ( x n ) ) = n σ 2 . {\displaystyle \operatorname {Var} (T)={\big (}\operatorname {Var}...
Pulsus Group is a health informatics and digital marketing company and publisher of scientific, technical, and medical literature. It was formed in 1984...
Broccoli (Brassica oleracea var. italica) is an edible green plant in the cabbage family (family Brassicaceae, genus Brassica) whose large flowering head...
"Clinical and diagnostic aspects of gluten related disorders". World J Clin Cases. 3 (3): 275–84. doi:10.12998/wjcc.v3.i3.275. PMC 4360499. PMID 25789300...
retrospective multicenter study from Italy and review of the literature". J Clin Microbiol. 43 (4): 1818–28. doi:10.1128/JCM.43.4.1818-1828.2005. PMC 1081342...