+ +
NOTE:
+These data are for research purposes only. While the ClinGen data are
+open to the public, users seeking information about a personal medical or
+genetic condition are urged to consult with a qualified physician for
+diagnosis and for answers to personal medical questions.
+
+UCSC presents these data for use by qualified professionals, and even +such professionals should use caution in interpreting the significance of +information found here. No single data point should be taken at face +value and such data should always be used in conjunction with as much +corroborating data as possible. No treatment protocols should be +developed or patient advice given on the basis of these data without +careful consideration of all possible sources of information. +
++No attempt to identify individual patients should +be undertaken. No one is authorized to attempt to identify patients +by any means. +
+ ++The ClinGen Dosage Sensitivity dataset shows evidence supporting or refuting +haploinsufficiency (loss) and triplosensitivity (gain) as mechanisms for disease at +gene-level and larger genomic regions. +
++A rating system is used to classify the evidence supporting or refuting dosage +sensitivity for individual genes and regions, which takes in consideration the following criteria: +number of causative mutations reported, patterns of inheritance, consistency of phenotype, evidence +from large-scale case-control studies, mutational mechanisms, data from public genome variation +databases, and expert consensus opinion. +
++The system is intended to be of a "dynamic nature", with regions being reevaluated periodically to +incorporate emerging evidence. The evidence collected is displayed within a publicly available +database. Evidence +that haploinsufficiency or triplosensitivity of a gene is associated with a specific +phenotype will aid in the interpretive assessment of CNVs including that gene. +
++There are two subtracks in this track set: +
+
+Scores are used to classify the evidence of the supporting dosage sensitivity map: +
+For more information on the use of the scores see the ClinGen +FAQs. +Items are shaded according to dosage sensitivity type. red for haploinsufficiency, +blue for triplosensitivity, violet +for associations with autosomal recessive phenotypes, and grey +for genes/regions that have not been evaluated yet or no evidence is available. A light to dark +gradient color is used according to the degree of supporting evidence. +
++Mouseover on items shows the supporting evidence of dosage sensitivity and respective scores. All +tracks can be filtered according to the supporting evidence of dosage sensitivity. +
+ ++The raw data can be explored interactively with the Table Browser, +or the Data Integrator. For automated analysis, the data may +be queried from our REST API. Please refer to our +mailing list archives +for questions, or our Data Access FAQ for more +information. +
+ ++Thank you to ClinGen and NCBI, especially Erin Rooney Riggs for technical coordination and +consultation, and to Christopher Lee, Anna Benet-Pages, and Maximilian Haeussler of the Genome +Browser team for engineering the track display. +
+ ++Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin +CL, Nussbaum RL et al. + +ClinGen--the Clinical Genome Resource. +N Engl J Med. 2015 Jun 4;372(23):2235-42. +PMID: 26014595; PMC: PMC4474187 +
+ ++Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, +Kearney HM et al. + +Towards an evidence-based process for the clinical interpretation of copy number variation. +Clin Genet. 2012 May;81(5):403-12. +PMID: 22097934; PMC: PMC5008023 +
+ ++Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, +Seifert BA, Sneddon TP et al. + +Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed +by the Clinical Genome Resource. +Am J Hum Genet. 2017 Jun 1;100(6):895-906. +PMID: 28552198; PMC: PMC5473734 +
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