aa61ebc800429515f9ced7e28f669c6042219f43 max Wed Mar 18 09:09:13 2026 -0700 varFreqs supertrack: add GREGoR track, update all HTML docs, move scripts to varFreqs/, refs #36642 Add GREGoR R04 WGS track to varFreqs superTrack. Update Data Access and Methods sections for all 20+ subtrack HTML files with consistent formatting, sequencing methods from source papers, and links to makeDoc and Github scripts. Move all varFreqs conversion scripts into scripts/varFreqs/ subdirectory and update makeDoc paths accordingly. Co-Authored-By: Claude Opus 4.6 diff --git src/hg/makeDb/trackDb/human/finngen.html src/hg/makeDb/trackDb/human/finngen.html new file mode 100644 index 00000000000..80e1daa8335 --- /dev/null +++ src/hg/makeDb/trackDb/human/finngen.html @@ -0,0 +1,56 @@ +

Description

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+FinnGen is a public-private partnership +that combines genotype data from Finnish biobanks with digital health record data from Finnish +health registries. The R12 release contains imputed variants from 500,348 biobank samples obtained +using genotyping arrays. The imputation used phased variants obtained from 8,554 high-quality +whole genome sequences, also from Finland. This represents approximately 10% of the Finnish +population. Phenotype links can be viewed at the +FinnGen PheWeb. +

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Data Access

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+Due to license restrictions, the data for this track cannot be downloaded from the UCSC +Genome Browser. The Table Browser, Data Integrator, and download server are not available +for this track. +

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+TSV data can be requested via the form at +FinnGen, +which triggers an automated email containing the download link. +A script in our Github repo converts this file to VCF (see Methods below). +

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Methods

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+FinnGen participants were genotyped using a custom Axiom FinnGen1 array, supplemented by legacy +collections genotyped with other arrays. Imputation used a population-specific reference panel of +high-coverage (25–30x) whole-genome sequences from Finnish individuals. Ancestry outliers were +removed via PCA against 1000 Genomes reference samples, and 5,780 duplicates and monozygotic twins +were excluded. Variant quality was assessed using VQSR. +

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+R12 annotated variants were downloaded from the Google Cloud bucket link received through an email +and converted to VCF with a +custom Python script. +We provide documentation that indicates how all source files of the varFreqs track were converted in the makeDoc file of the track. +For some tracks, python scripts were necessary and are also available from Github. +

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Credits

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+We want to acknowledge the participants and investigators of the FinnGen study. +

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References

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+Kurki MI, Karjalainen J, Palta P, Sipilä TP, Kristiansson K, Donner KM, Reeve MP, Laivuori H, +Aavikko M, Kaunisto MA et al. + +FinnGen provides genetic insights from a well-phenotyped isolated population. +Nature. 2023 Jan;613(7944):508-518. +PMID: 36653562; PMC: PMC9849126 +