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 @@ -31,91 +31,91 @@ 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.