e9934975b34d714a60fefb524c24d8d42a617863 Merge parents e3d6014 0bb5fe7 dschmelt Wed Mar 16 11:35:35 2022 -0700 Resolving merge refs #29100 diff --cc src/hg/makeDb/trackDb/human/panelApp.html index 8a2f1f4,66fc8ad..46affa4 --- src/hg/makeDb/trackDb/human/panelApp.html +++ src/hg/makeDb/trackDb/human/panelApp.html @@@ -29,63 -30,63 +30,63 @@@

The individual tracks are colored by confidence level:

Score 3 (lime green) - High level of evidence for this gene-disease association. Demonstrates confidence that this gene should be used for genome interpretation.
Score 2 (amber) - Moderate evidence for this gene-disease association. This gene should not be used for genomic interpretation.
Score 0 or 1 (red) - Not enough evidence for this gene-disease association. This gene should not be used for genomic interpretation.

-Mouseover on items shows the gene name, confidence level, mode of inheritance -(if known) and phenotypes related to the gene. supporting evidence of -dosage sensitivity. Tracks can be filtered according to the confidence +Mouseover on items shows the gene name, panel associated, mode of inheritance +(if known), phenotypes related to the gene, and confidence level. Tracks can +be filtered according to the confidence level of disease association evidence. For more information on -the use of this data see the -PanelApp FAQs. +the use of this data, see the PanelApp +FAQs.

Data Access

The raw data can be explored interactively with the - Table Browser or the - Data Integrator. + Table Browser or the + Data Integrator. For automated analysis, the data may be queried from our - REST API. + REST API. Please refer to our mailing list archives for questions, or our - + Data Access FAQ for more information.

Data is also freely available on the PanelApp API.

Methods

PanelApp files were reformatted at UCSC to the bigBed format. + href="/goldenPath/help/bigBed.html">bigBed format.

Credits

Thank you to Genomics England PanelApp, especially Catherine Snow for technical - coordination and consultation, and to Beagan Nguy, Christopher Lee, Daniel Schmelter - and Anna Benet-Pages of the Genome Browser team. + coordination and consultation. Thank you to Beagan Nguy, Christopher Lee, Daniel Schmelter, + and Ana Benet-Pagès of the Genome Browser team for the creation of the tracks.

Reference

Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, Leong IUS, Smith KR, Gerasimenko O, Haraldsdottir E et al. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. PMID: 31676867