9bfd58221b1539193cb7f0a317b4e959c1c7e49a
max
Thu May 21 01:00:45 2026 -0700
varFreqs: AI generated text sounds bad, hard to read, so remove typical AI language. "humanizer" pass on all 31 varFreqs description pages — cut em dashes, copula avoidance ("serves as", "stands as"), "-ing" puffery, and boilerplate filler ("We provide documentation that indicates how..."). Title-case headings and meaningful emphasis preserved. No facts/URLs/counts/versions changed. tpmi.html added as a new file (was previously uncommitted). refs #36642
Co-Authored-By: Claude Sonnet 4.6 vt discover2 and normalization with vt normalize; (2) cross-sample variant site
consolidation using cramore vcf-merge-candidate-variants; (3) joint genotyping across all
samples; and (4) variant filtering using a Support Vector Machine (SVM) classifier
(libsvm) trained on positive labels derived from HapMap 3.3 and 1000 Genomes Omni2.5
array sites, and negative labels derived from Mendelian-inconsistent variants identified
within the cohort's pedigree structure using vt milk-filter. Sample-level quality
control included estimation of DNA contamination, genetic ancestry, and biological sex
using cramore cram-verify-bam (verifyBamID2) and relative X/Y chromosomal depth. Full
methods for TOPMed freeze 10 are available on the
TOPMed WGS Methods page.
-We provide documentation that indicates how all source files of the varFreqs track were converted in the makeDoc file of the track. +Documentation on how all source files of the varFreqs track were converted is in the makeDoc file of the track. For some tracks, python scripts were necessary and are also available from GitHub.
Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 Feb;590(7845):290-299. PMID: 33568819; PMC: PMC7875770