ClinVar: public archive of relationships among sequence variation and human phenotype

@inproceedings{Landrum2014ClinVarPA,
  title={ClinVar: public archive of relationships among sequence variation and human phenotype},
  author={Melissa J. Landrum and Jennifer M. Lee and George R. Riley and Wonhee Jang and Wendy S. Rubinstein and Deanna M. Church and Donna R. Maglott},
  booktitle={Nucleic Acids Research},
  year={2014}
}
ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports of relationships among medically important variants and phenotypes. ClinVar accessions submissions reporting human variation, interpretations of the relationship of that variation to human health and the evidence supporting each interpretation. The database is tightly coupled with dbSNP and dbVar, which maintain information about the location of variation on human assemblies. ClinVar is also based on… CONTINUE READING
Highly Influential
This paper has highly influenced 82 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS
Related Discussions
This paper has been referenced on Twitter 11 times. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 527 extracted citations

Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?

Trends in molecular medicine • 2016
View 5 Excerpts
Highly Influenced

Evolutionary genomic dynamics of Peruvians before, during, and after the Inca Empire

Proceedings of the National Academy of Sciences of the United States of America • 2018
View 6 Excerpts
Highly Influenced

References

Publications referenced by this paper.
Showing 1-10 of 15 references

An integrated map of genetic variation from 1,092 human

Consortium, G. R. Abecasis, +7 authors G. A. McVean
genomes. Nature, • 2012

NHLBI GO Exome Sequencing Project— ESP Lung Project Team

D. C. Christiani, M. M. Wurfel, X. Lin
Am. J. Hum. Genet., • 2012

Similar Papers

Loading similar papers…