/t2t-variants

Primary LanguagePapyrusMIT LicenseMIT

Aganezov, S*, Yan, SM*, Soto, DC*, Kirsche, M*, Zarate, S*, Avdeyev, P, Taylor, DJ, Shafin, K, Shumate, A, Xiao, C, Wagner, J, McDaniel, J, Olson, ND, Sauria, MEG, Vollger, MR, Rhie, A, Meredith, M, Martin, S, Lee, J, Koren, S, Rosenfeld, J, Paten, B, Layer, R, Chin, CS, Sedlazeck, FJ, Hansen, NF, Miller, DE, Phillippy, AM, Miga, KM, McCoy, RC†, Dennis, MY†, Zook, JW†, Schatz, MC† (2022) Science doi: 10.1126/science.abl3533

Primary analysis

  • 1000genomes_metadata: how/where to download metadata for 1000 genomes samples
  • figures: individual panels from Figures 2 and 3 along with related supplemental figures
  • population-variant-stats-per-sample: count of variants per sample in 1KGP across population/superpopulation as plotted in Figure 2 and related Supplemental Figures
  • svs.ipynb Analysis of long read mapping and SV calls
  • superpopulation-af: Allele frequency of variants in each 1KGP superpopulation as plotted in Figure 2
  • wdls: Workflows for processing the 1000 genomes samples in AnVIL

Exploratory analysis