5a185db3a16a454b4e9b6c39e803b3c88aa58b33 max Wed Sep 25 02:27:16 2019 -0700 fix suggested by qa, refs #24157 diff --git src/hg/makeDb/trackDb/human/mastermind.html src/hg/makeDb/trackDb/human/mastermind.html index 8c9024b..a8b2b13 100644 --- src/hg/makeDb/trackDb/human/mastermind.html +++ src/hg/makeDb/trackDb/human/mastermind.html @@ -1,96 +1,97 @@

Description

This track shows most variants found in the full text of scientific publications gathered by Genomenon Mastermind. Mastermind uses a software that searches for disease-gene-variant associations in the scientific literature. The genome browser track shows only if a variant has been indexed by the search engine.

To get details on a variant (bibliographic references, disease, etc) click it and follow the "Protein change and link to details" at the top of the details page. Mouse over an item to show the gene and amino acid change and the scores MMCNT1, MMCNT2 and MMCNT3, explained below.

Genomenon Mastermind Genomic Search Engine is a commercial database of variants likely to be mentioned in full text scientific articles. A limited number of queries per week is free for healthcare professionals and researchers, if they register on the signup page page. Advanced features require a license for the Mastermind Professional Edition, which contains the same content but allows more comprehensive searches.

Display Conventions and Configuration

Genomic locations of variants are labeled with the nucleotide change. Hover over the features to see the gene, the amino acid change and the scores MMCNT1, MMCNT2 and MMCNT3, described below. All other information is shown on the respective Mastermind variant detail page, accessible via the "Protein change and link to details" at the top of the details page. The features are colored based on their evidence:

-

In Sep 2019, suggested by Genomenom, we added a filter on all variants. From then on, we skip variants with more than -one nucleotide and MMCNT is 0 and where the variant is not an idel, meaning +

As suggested by Genomenom, we added a filter on all variants to make the + We skip variants with more than one +nucleotide and where MMCNT0 is 0 and where the variant is not an idel, meaning that for longer variants, only variants are shown that are explicitely -mentioned in the papers. This makes the data more specific. +mentioned in the papers.

Color Level of support
High: at least one paper mentions this exact cDNA change
Medium: at least two paper mention a variant that leads to the same amino acid change
Low: only a single paper mentions a variant that leads to the same amino acid change

The three numbers that are shown on the mouse over and the details page have the following meaning (MM=Mastermind):

On the track setting page one can filter on these scores under the display mode section by entering a minimum number of articles for each kind of evidence.

Methods

The Mastermind Cited Variants file was downloaded, converted to BED format with scripts that are available in our Git repository and converted to a bigBed file with the UCSC genome browser tool bedToBigBed.

This track is automatically updated two weeks after every Mastermind CVR release, which happens every three months.

Credits

Thanks to Mark Kiel, Steve Schwartz and Clayton Wheeler from Genomenon for making this data available.