68c5b3b5dfc4053ff78a6b1d236bd1ac90251cfa lrnassar Mon Jun 1 14:40:45 2026 -0700 varFreqs: description pages for the three combined tracks and "SNV" rename sweep. Add varFreqsDisease.html and varFreqsArray.html so the two new combined tracks have full Description/Display/Methods/Data Access/References. Add a Caveats section on varFreqsArray about chip-data quality vs sequencing. Update varFreqsAll.html and the supertrack varFreqs.html to reflect the three-combined-track family (cross-links between siblings, new "Combined Tracks" section, new table rows, and updated source/variant counts). Add a GoNL row to the supertrack table. Sweep 37 subtrack longLabels and four cross-referencing description pages (colorsDbSnv.html, mei.html, meiSwegen.html, phasedVars.html) from "Variant Frequencies:" to "SNV Frequencies:" to match the supertrack shortLabel. refs #36642 diff --git src/hg/makeDb/trackDb/human/varFreqs.html src/hg/makeDb/trackDb/human/varFreqs.html index fa9d6dbb231..bb8288f2744 100644 --- src/hg/makeDb/trackDb/human/varFreqs.html +++ src/hg/makeDb/trackDb/human/varFreqs.html @@ -1,648 +1,680 @@
This supertrack collects variant allele frequencies from population-scale sequencing and genotyping projects worldwide, from a total of ~1.7 million genomes/exomes/arrays. -The data was not reprocessed in a harmonized way; the variant VCFs were collected from the projects as-is. -The goal is a single place to compare how common -a variant is across different populations, ancestries, and cohorts, for -projects that cannot be recomputed by gnomAD soon. The main -combined track merges all databases into one summary track, -with filters, summed population frequencies and recalculated protein-effect annotations. -There is also one subtrack per project with the original VCF data and all the annotations that the project provides. -The different projects use different pipelines and sequencing technologies. Click any of the projects -above or below for a summary of their sample selection, sequencing assay and software pipeline. -Many projects do not allow us to distribute the data, but we document how to request it -and provide all converters.
+The data was not reprocessed in a harmonized way; the variant VCFs were collected from the +projects as-is. The goal is a single place to compare how common a variant is across +different populations, ancestries, and cohorts, for projects that cannot be recomputed by +gnomAD soon. Three combined tracks aggregate the source data along different lines, and +there is also one subtrack per project with the original VCF data and all the annotations +that the project provides. The different projects use different pipelines and sequencing +technologies. Click any of the projects above or below for a summary of their sample +selection, sequencing assay and software pipeline. Many projects do not allow us to +distribute the data, but we document how to request it and provide all converters. +Data from projects that provide haplotype-phased genotypes can also be found elsewhere: 1000 Genomes is also a separate track, and the phased genotypes HGDP, SGDP, HGDP+1000 Genomes and Mexico Biobank can also be found in the "Phased Variants" track. Their VCF versions below show only the isolate frequency per variant.
Please contact us (genome@soe.ucsc.edu) if you know of a project that we should add. So far, Regeneron's Million Exomes and Mexico City Studies (request rejected) and Taiwan Biobank (pending).
--The "All Databases Combined" track merges variants from all individual databases into a single -bigBed file with consequence annotations, totaling 1.17 billion variants from ~1.7 million individuals. -The track supports filtering by variant type -(SNV, insertion, deletion, MNV), predicted consequence (missense, synonymous, stop gained, -frameshift, splice, intron, intergenic), source database, allele frequency (overall maximum -and per-database), and allele count (total or per-database). The track is useful in dense mode -to get a quick overview of variant density across all projects, or with filters to find -variants present in specific databases or within certain frequency ranges. With the "clone track" -feature you can clone this track and keep multiple versions, each with different filters activated. -The "Density mode" checkbox on the track configuration page shows a plot of the -density of variants passing a filter, one per track clone. +Three combined tracks merge variants from the individual subtracks into single bigBed files +with predicted protein consequences and cross-database filtering. All three use the same +filter conventions (variant type, consequence, source database, allele frequency, allele +count, and per-database AF/AC).
+| Database | Region | N | Data Type | Cohort | Sub-populations | Downloadable from UCSC | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| All Databases combined | -All below | -1.7mil | -WGS/WES/imputed | -- | + | All Databases Combined | +Sequencing-based, all below | +~1.7mil | +WGS/WES/long-read | +1.34B variants | +Phenotype splits for SPARK, SFARI WGS, GREGoR | +No | +
| Disease-related Databases Combined | +SPARK, SFARI WGS, TOPMed, SCHEMA, GREGoR, GA4K | +~300k | +WGS/WES/long-read | +932M variants | +SPARK ASD/Non-ASD, SFARI WGS ASD/Non-ASD, SCHEMA case/control, GREGoR aff/unaff/unknown | +No | +||||||
| Genotyping Array Databases Combined | +TPMI, MexBB, UKBB | +~530k | +Array / imputed | +14.7M variants | +— | No | ||||||
| AllOfUs v7 | USA | 245k | WGS | General population, diverse | African, Indigenous American, East Asian, European, Oceanian, South Asian (local ancestry; see Notes below) | Yes | ||||||
| TOPMED Freeze 10 | USA | 151k | WGS | Heart, lung, blood, sleep disorder cohorts | — | Yes | ||||||
| SFARI SPARK WES | USA | 140k | WES | Autism families (parents + affected children) | — | No | ||||||
| SFARI SPARK WGS | USA | 12.5k | WGS | Autism families (parents + affected children) | — | No | ||||||
| NCBI ALFA R4 | USA | 408k | WGS/WES/array mix | Aggregated dbGaP studies, mixed phenotypes | — | Yes | ||||||
| FinnGen R12 | Finland | 500k | Imputed (8.5k WGS ref panel) | National biobank, ~10% of population | — | Yes | ||||||
| UK Biobank (Neale Lab v3) | UK | 361k | Imputed array (HRC+UK10K+1KGp3 ref panel) | White British subset of UK Biobank, Neale Lab Round 2 GWAS | — | Yes | ||||||
| SweGen | Sweden | 1k | WGS | Cross-section of Swedish population | — | No | ||||||
| GoNL | +Netherlands | +498 | +WGS (~13x) | +250 unrelated Dutch trios (parents only) | +— | +Yes | +||||||
| SCHEMA | Multi-national | 121k | WES | Schizophrenia: 24k cases, 97k controls | — | Yes | ||||||
| Japan ToMMO 61k | Japan | 61k | WGS | General population | — | Yes | ||||||
| WBBC China | China | 4.5k | WGS | Westlake BioBank for Chinese pilot (now part of China Precision BioBank), autosomes only | North Han, Central Han, South Han, Lingnan Han (by recruitment region) | Yes | ||||||
| ChinaMAP phase 1 | China | 10.5k | WGS | China Metabolic Analytics Project, ~40x depth, 27 provinces and 8 ethnic groups, autosomes only | — | No | ||||||
| Taiwan TPMI | Taiwan | 165k | Axiom SNP array (TPM1) | Taiwan Precision Medicine Initiative, Han Chinese | — | No | ||||||
| Australia MGRB | Australia | 4k | WGS | Healthy elderly (age ≥70) | — | No | ||||||
| GenomeAsia Pilot | Asia (219 groups) | 1.7k | WGS | Diverse populations across Asia | Northeast Asian, Southeast Asian, South Asian, Oceanian, American, African, Western European Reference | Yes | ||||||
| ABraOM Brazil | Brazil | 1.2k | WGS | Elderly admixed individuals (São Paulo) | — | Yes | ||||||
| IndiGenomes | India | 1k | WGS | Healthy individuals | — | Yes | ||||||
| GenomeIndia 9.7k | India | 9.8k | WGS (≥23x) | 83 anthropologically defined endogamous populations across India | — | Yes | ||||||
| KOVA Korea | Korea | 5.3k | 1.9k WGS + 3.4k WES | Normal tissue from cancer patients, healthy parents, volunteers | — | No | ||||||
| NPM Singapore | Singapore | 9.8k | WGS | Chinese, Indian, Malay ancestry | — | No | ||||||
| Saudi Genome | Saudi Arabia | 302 | WGS (30x) | Saudi population | — | Yes | ||||||
| HRC | Multi-national | ~30k | Low-coverage WGS (7x) | Imputation reference panel (excl. 1000 Genomes) | — | Yes | ||||||
| MXB Mexico Biobank | Mexico | 6k | Genotyping array | Diverse Mexican ancestries, 898 recruitment sites | By state, by ancestry | No | ||||||
| SGDP | Global | 279 | WGS | 142 diverse populations worldwide | By population | Yes | ||||||
| GREGoR R4 | USA | 3.6k | WGS | Rare disease families (10.7k participants, 4.4k families) | — | No | ||||||
| gnomAD HGDP+1kG | Global | 4k | WGS | 80 populations (HGDP + 1000 Genomes reprocessed) | 4k-cohort total AF only; per-population AF columns are full gnomAD v3.1.2 release values (~76k genomes), see Notes below | Yes | ||||||
| GA4K | USA | 552 | PacBio HiFi long-read WGS | Genomic Answers for Kids: pediatric rare-disease probands and families (Children's Mercy) | — | Yes | ||||||
| CoLoRSdb v1.2.0 | Multi-national | 1,027 | PacBio HiFi long-read WGS | Consortium of Long Read Sequencing: aggregated population-consented samples across multiple research cohorts | — | Yes | ||||||
| SVatalog 101 | Canada (SickKids) | 101 | 10X Genomics linked short-read WGS | GWAS SVatalog cohort: 101 samples with matched long-read SVs (see chirmade101Sv) | — | Yes | ||||||
| Indigenous Africans 180 | Africa (Ethiopia, Tanzania, Cameroon, Botswana) | 180 | WGS (>30x) | 12 indigenous populations across all four African language phyla (Khoesan, Niger-Congo, Nilo-Saharan, Afroasiatic) | — | No |
The AllOfUs subtrack provides local-ancestry-stratified allele frequencies, not the global ancestry categories used in the All of Us Research Program 2024 Nature paper (see References). Each variant's per-ancestry AF/AC counts only the haplotypes whose inferred local ancestry at that exact genomic position belongs to the named group (strict-both-haps mode). The six ancestry classes (African, Indigenous American, East Asian, European, Oceanian, South Asian) match HGDP-derived local-ancestry reference panels and so include Oceanian, which is not one of the paper's six global Rye categories (those are AFR, AMR, EAS, EUR, Middle Eastern, SAS). For an admixed individual, the local-ancestry AF at a position can therefore differ substantially from the AF among self-reported members of the same ancestry group. The Ioannidis lab (Phoenix, UCSC) developed the pipeline that produced this VCF and applied it to the AllOfUs v7 release; only variants with cohort allele count ≥ 20 were retained.
This subtrack derives from the gnomAD v3.1.2 release, which embeds the 4,094-genome jointly-called HGDP+1kG cohort (Koenig et al. 2024) inside the larger gnomAD aggregation. To save space, we kept only INFO fields useful for clinical and population-genetic interpretation. Two allele-frequency sets are exposed:
The filter labels on the track configuration page, and the field descriptions in the combined-track bigBed, reflect this distinction. Per-population HGDP+1kG-cohort frequencies are not exposed because the cohort is too small for stable per-population estimates in many populations.
Most tracks only show the variant and allele frequencies on mouseover or clicks. When zoomed in, tracks display alleles with base-specific coloring. Homozygote data are shown as one letter; heterozygotes are shown with both letters. All VCF files are normalized, with one allele per annotation (no multi-allele lines).
Each subtrack includes the upstream project's VCF largely as-released; per-subtrack pipelines
(coordinate liftover, format conversion, header normalization) are documented on each
subtrack's own description page and recorded in the
build documentation.
The conversion scripts (e.g. finngen_to_vcf.py, kovaToVcf.py,
schema_addAcAnAf.py, svatalogFreqToVcf.py) live alongside the makedoc
in the scripts directory.
The combined "All Databases" subtrack is built by a separate pipeline:
each per-subtrack VCF is normalized (bcftools norm), all sites are merged into a single
multi-sample callset, consequence annotations are recomputed against Ensembl with bcftools csq,
and the result is converted to bigBed via vcfToBigBed.py + bedToBigBed.
The mapping from upstream INFO fields to bigBed columns is driven by two configuration files in the
scripts directory: databases.tsv (one row per source dataset) and
populations.tsv (per-population AC/AF columns within each source).
Editing those two files and rerunning mergeAndAnnotate.sh followed by
vcfToBigBed.py rebuilds the combined track.
All the data is publicly available. The table above indicates if we are allowed to distribute it in VCF format. Most of the databases do not allow us to redistribute the data files directly from our website, but it can always be downloaded from the original websites in some form. Click the database link in the table above and see the "Data Access" section of the respective track for a description of where to download the data. When the data is freely available from our website, the Data Access section will also indicate the VCF file location on our download server. Because it contains some licensed data, the combined track is not available for download, but can be recreated using the conversion scripts in our GitHub repository and the accompanying documentation file.
This track is only possible thanks to the data from millions of volunteers around the world, who donated blood, signed consent forms and provided health information about themselves and sometimes their families. Click any of the tracks in the list above to see the specific credits for each project. Thanks to Alex Ioannidis, UCSC, for the motivation for this track and to Andreas Lahner, MGZ, for feedback.
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