Frequently Asked Questions

Frequently Asked Questions

• How often are the Rare Disease Genes databases updated?

  We strive to update the site up to twice yearly, based on the availability of new data. Each variant record displays the date of last update.

• Where are data sourced from?

  Data are provided from three main sources:

  • Comprehensive published literature reviews for variants in genes of interest
  • Clinical studies & sponsored testing programs
  • External individual contributors or transferred datasets

• How do you ensure you are capturing unique patients?

  For variants identified through literature review, publications potentially describing the same variant and/or individual are linked to reduce double-counting. We ask individual data contributors to check Rare Disease Genes prior to submitting their data and to omit any individual that have previously been published in the literature. Because data are de-identified, duplicated data cannot be completely eliminated as a possibility.

• How is information curated?

  Data submissions are reviewed by a curator or the relevant advisory committee for completeness, accuracy and relevance prior to inclusion in the online database. Advisory committees are comprised of global disease and gene-specific experts.

• How are variants classified?

  Variant classifications are provided as reported by a laboratory or a predicted classification when provided from the literature using the ClinGen Variant Curation Interface using the American College of Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology (AMP) criteria.

• Do you have individual level phenotypic information?

  No. In an effort to protect individual privacy, the number of times a variant is seen as well as associated phenotypes are reported in aggregate.

• How do I provide feedback/make a request?

  We welcome your feedback to improve the Rare Disease Genes databases. Please use the contact us form.

• Can I download the data?

  Yes. Genotype tables and variant-level tables can be downloaded for use.

• How is privacy protected?

  The databases only provide aggregated data, and do not provide individual-level data. All data handling and data requests will be in compliance with ethical guidelines for scientific research, as well as legal requirements for data handling, transfer, storage and sharing.

• How do I cite Rare Disease Genes?

  Citation & acknowledgement notice: Any use of data contained within this web site must receive appropriate acknowledgement, and should be cited as follows: Name of the database (e.g. PHEXdb, LC-FAODdb) and http://www.rarediseasegenes.com