References

Genoox acknowledges that its services include data from third parties, including:

  1. Dgv. Citation: MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW. The database of genomic variants: a curated collection of structural variation in the human genome. Nucleic Acids Res. 2013 Oct 29. PubMed PMID: 24174537. The Dgv is provided by The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.

(See: http://dgv.tcag.ca/dgv/app/about?ref=GRCh37/hg19; http://www.tcag.ca/projects/databaseDisclaimer.html)

  1. dbVar. dbVar is a free resource that is developed and maintained by the National Center for Biotechnology Information (NCBI) at the U.S. National Library of Medicine (NLM), located at the National Institutes of Health (NIH) in Bethesda, Maryland. (See: https://www.ncbi.nlm.nih.gov/dbvar/content/help/)
  2. UMLS. NLM as its source of the UMLS Metathesaurus 2015AB. Disclaimer: Neither NLM nor any of its affiliated organizations whose vocabulary sources are included in the UMLS have endorsed Genoox or its products. (See: https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html)
  3. HPO. This service/product is using the Human Phenotype Ontology – Build 1249 (2018-01). Find out more at http://www.human-phenotype-ontology.org.
  4. Orphanet. Orphanet is an online rare disease and orphan drug data base. © INSERM 1997 Available on http://www.orpha.net. Orphanet is licensed under the Creative Commons Attribution-NoDerivs
    Licence (See: http://creativecommons.org/licenses/by-nd/3.0/).
  5. dbNSFP. Liu X, Wu C, Li C and Boerwinkle E. 2016. dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Non-synonymous and Splice Site SNVs. (see: https://sites.google.com/site/jpopgen/dbNSFP)
  6. fathmm. Shihab HA, Gough J, Mort M, Cooper DN, Day INM, Gaunt, TR. (2014). Ranking Non-Synonymous Single Nucleotide Polymorphisms based on Disease Concepts. Human Genomics
    (see: http://fathmm.biocompute.org.uk/downloads.html)
  7. MutationTaster Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014 Apr
    (See: http://www.mutationtaster.org/)
  8. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009
    (See: http://sift.jcvi.org/blocks/license.html)
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