VarCards specifications

Information


Unique identifier OMICS_24123
Name VarCards
Restrictions to use None
Community driven No
Data access File download, Browse
User data submission Allowed
Maintained Yes

Maintainers


  • person_outline Zhong Sheng Sun
  • person_outline Liying Ji

Publication for VarCards

VarCards citations

 (2)
library_books

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

2018
Hum Genomics
PMCID: 5831694
PMID: 29490693
DOI: 10.1186/s40246-018-0141-y

[…] deleterious. Overall, 11 variant prediction algorithms predict this variant to be damaging to the structure/function of DDX3X out of a total of 21 in silico assessments [], http://159.226.67.237/sun/varcards/welcome/index). The variant was found only once in heterozygosity, in a female, in > 170,000 control exomes []. We note that, in contrast to the majority of described DDX3X variants that lie […]

library_books

The 2018 Nucleic Acids Research database issue and the online molecular biology database collection

2017
Nucleic Acids Res
PMCID: 5753253
PMID: 29316735
DOI: 10.1093/nar/gkx1235

[…] e-organism-data-in-dbsnp-and-dbvar/).The well-used ClinVar resource () also contributes an update and is joined in interpreting human genome variation and its implications for disease by the newcomer VarCards (). Two interesting new databases, PGG.Population () and PopHuman () present a population genomics perspective of human genome variation, each containing thousands of human genomes from acros […]

VarCards institution(s)
Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China; Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China; Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing, China
VarCards funding source(s)
Supported by National Key R&D Program of China [2016YFC0900400]; National Natural Science Foundation of China [31571301].

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