Lesson plan

DECIPHER

with the DECIPHER track enabled. Red bars represent individual mutations for anonymous patients with deletions across this region, while green bars represent patients with duplications across this region. The region shown encompasses the segment of chromosome missing in patients with 17q21.3 recurrent microdeletion syndrome. DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA. It documents submicroscopic chromosome abnormalities (microdeletions and duplications) and pathogenic sequence variants (single nucleotide variants - SNVs, Insertions, Deletions, InDels), from over 25000 patients and maps them to the human genome using Ensembl or UCSC Genome Browser. In addition it catalogues the clinical characteristics from each patient and maintains a database of microdeletion/duplication syndromes, together with links to relevant scientific reports and support groups. An acronym of DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources, DECIPHER was initiated in 2004 at the Sanger Institute in the United Kingdom, funded by the Wellcome Trust. However it is supported by an international research consortium, with patient data contributed by more than 240 clinical genetics centres from 33 countries. Each centre is represented by an experienced clinical geneticist and a senior molecular cytogeneticist.

Back to article

Article summary

with the DECIPHER track enabled. Red bars represent individual mutations for anonymous patients with deletions across this region, while green bars represent patients with duplications across this region. The region shown encompasses the segment of chromosome missing in patients with 17q21.3 recurrent microdeletion syndrome. DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA. It documents submicroscopic chromosome abnormalities (microdeletions and duplications) and pathogenic sequence variants (single nucleotide variants - SNVs, Insertions, Deletions, InDels), from over 25000 patients and maps them to the human genome using Ensembl or UCSC Genome Browser. In addition it catalogues the clinical characteristics from each patient and maintains a database of microdeletion/duplication syndromes, together with links to relevant scientific reports and support groups. An acronym of DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources, DECIPHER was initiated in 2004 at the Sanger Institute in the United Kingdom, funded by the Wellcome Trust. However it is supported by an international research consortium, with patient data contributed by more than 240 clinical genetics centres from 33 countries. Each centre is represented by an experienced clinical geneticist and a senior molecular cytogeneticist.

Key claims

  1. date of establishment: 2004 — source: Wikipedia · confidence 0.95

Discussion questions

  1. Summarise the article in your own words. Which single claim would you verify first, and why?
  2. The record states that the date of establishment is "2004". What evidence would count against this claim?
  3. Which claim in this article is most likely to be revised as the sources update? How would you check its current status?
  4. If two sources disagreed about one of these facts, what would you need in order to trust one over the other?

Bibliography

  1. Wikipedia https://en.wikipedia.org/w/index.php?oldid=1348914207

Key claims and bibliography are generated from the same tracked claims and sources as the article page.