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

  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},
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
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