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Dryad

Splice altering variant predictions in four archaic hominin genomes

Data files

Aug 08, 2022 version files 829.90 MB
Dec 16, 2022 version files 871.96 MB

Abstract

This file contains high-quality autosomal SNVs that occur among four high-coverage archaic genomes aligned to the hg19/GRCh37 reference genome. Each entry corresponds to a single variant with a distinct GENCODE, Human Release 24, annotation per genomic position. Data per variant includes the genomic position, reference/alternate alleles, archaic genotypes, gene annotation, and additional data relevant to the analysis of splicing variants:

  • SpliceAI annotations
  • gene constraint measured using data from gnomAD
  • variant conservation measured using phyloP
  • allele origin
  • allele frequencies in modern humans from the Thousand Genomes Project and gnomAD
  • introgression metadata
  • sQTL data from GTEx