9cedfa38c14068c79dec89f76c606ee22b3f931a max Wed Sep 30 15:02:37 2026 -0700 phasedVars: new subtrack hgdp1kSnv, a 17GB version of the 3.5TB gnomAD HGDP+1000G genotype VCF with only SNVs with AC>5 and only GT, so haplotype clustering can be shown up to 5Mbp, refs #37306 diff --git src/hg/makeDb/trackDb/human/phasedVars.html src/hg/makeDb/trackDb/human/phasedVars.html index 74fa8148711..80f7a4496df 100644 --- src/hg/makeDb/trackDb/human/phasedVars.html +++ src/hg/makeDb/trackDb/human/phasedVars.html @@ -95,30 +95,42 @@

MXB: Allele frequencies by geographical state and ancestry are available via the MexVar platform. Raw genotype data are available under controlled access at the EGA (Study: EGAS00001005797; Dataset: EGAD00010002361). For the VCFs, email andres.moreno@cinvestav.mx.

Methods

SGDP: The version used was https://sharehost.hms.harvard.edu/genetics/reich_lab/sgdp/vcf_variants/, merged with bcftools and lifted to hg38 with CrossMap.

+

+gnomAD HGDP+1000G, SNVs AC>5: The full gnomAD callset is 3.5 TB and too slow +to display in haplotype clustering mode except in very small windows. For this +second, smaller version we kept only single-nucleotide variants with an allele count +(INFO/AC) higher than five, only the GT genotype field and only the AC, AN and AF +INFO fields, using bcftools. Indels, rare variants and all other fields are only in +the full track. See the +makeDoc and the +script for details. +

Credits

MXB: We thank the Center for Research and Advanced Studies (Cinvestav) of Mexico for generating and providing the frequency data, the National Institute of Medical Sciences and Nutrition (INCMNSZ) for DNA extraction, and the Ministry of Health together with the National Institute of Public Health (INSP) for the design and implementation of the National Health Survey 2000 (ENSA 2000). We also thank the ENSA-Genomics Consortium for their contributions to sample collection and data processing that made possible the construction of the MXB genomic resource.

SGDP: This project was funded by the Simons Foundation. Thanks to David Reich and Swapan Mallick for help with importing the data.