106ce8e3a43c932f7a6485f81935620e0a21cf70 lrnassar Wed Mar 13 13:56:47 2024 -0700 Grammar corrections from CR feedback, refs #33223 diff --git src/hg/makeDb/trackDb/human/enigma.html src/hg/makeDb/trackDb/human/enigma.html index 60d1cbe..e8d65a8 100644 --- src/hg/makeDb/trackDb/human/enigma.html +++ src/hg/makeDb/trackDb/human/enigma.html @@ -1,145 +1,145 @@

Description

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 tracks listed here contain data from the ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1/BRCA1 Version 1.0.0. The ENIGMA VCEP has adapted the ACMG-AMP codes for the BRCA1 and BRCA2 genes. These include the codes PVS1 (modified PVS1 decision tree), PS3/BS3 (functional data), PP4/BP5 (multifactorial data), PM5_PTC (PTC data, at exon level), the (potentially) clinically important functional domains defined by ENIGMA, and prediction programs (SpliceAI and BayesDel for PP3/BP4).

The data required for the application of these ENIGMA codes are displayed in 5 data tracks:

Display Conventions

Data Access

-The most up-to-date VCEP specifications for application of ACMG/AMP criteria +The most up-to-date VCEP specifications for the application of ACMG/AMP criteria for BRCA1 and BRCA2 genes are freely available at the ClinGen Criteria Specification (CSpec) Registry. This registry is intended to provide access to the Criteria Specifications used and applied by ClinGen Variant Curation Expert Panels and biocurators in the classification of variants.

Methods

These data were created and adapted from the files referenced above. Some custom scripting was employed in tasks like mapping variants, adding colors and mouseovers, and producing the desired format. For the complete details on the data processing see the makedoc on our github.

Credits

Thank you to Luis Nassar from the Genome Browser team, Anna Benet-Pagès and Andreas Laner for technical coordination and consultation, and to the ENIGMA consortia for making these data available.

References

Enigma Guidelines: https://clinicalgenome.org/affiliation/50087/

Enigma Consortium: https://enigmaconsortium.org/

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E et al. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Hum Mutat. 2019 Sep;40(9):1557-1578. PMID: 31131967; PMC: PMC6772163