Datasets for: Resistance to malaria through structural variation of red blood cell invasion receptors (Leffler et al., 2017)

The datasets in this record accompany the article Leffler et al., “Resistance to malaria through structural variation of red blood cell invasion receptors”, Science 2017. Please cite this article if you make use of these data. Data files: Relating to CNV genotypes: cnv_genotypes_1000Genomes_README.txt: further information for the file cnv_carrier_genotypes_1000Genomes.txt cnv_carrier_genotypes_1000Genomes.txt: glycophorin CNV genotypes for 1000 Genomes individuals Relating to multiple sequence alignment: multiple_sequence_alignment_README.txt: further information for the file glycophorin.segdup.clustalw glycophorin.segdup.clustalw: an alignment of the three units of the glycophorin segmental duplication from the GRCh37 (hg19) reference sequence Relating to reference panel: glycophorin_combined_reference_panel.releasenote.txt: further information for reference panel files population_definitions.txt: populations for the analysis bgen_combined_panel.sample: sample metadata for bgen files combined_panel_CNVs.bgen: A panel including CNVs together with SNPs and INDELs flanking the glycophorin region for all samples combined_panel_CNVs.bgen.bgi: index file for combined_panel_CNVs.bgen combined_panel_SNPs_and_INDELs.bgen: A panel including SNPs (and INDELs) across the region, without CNVs, for all samples combined_panel_SNPs_and_INDELs.bgen.bgi: index file for combined_panel_SNPs_and_INDELs.bgen impute_combined_panel.sample: sample metadata for impute files combined_panel_CNVs.impute_haps.gz: IMPUTE hap file suitable for use with IMPUTE2 combined_panel_CNVs.impute_legend.gz: IMPUTE legend file suitable for use with IMPUTE2 combined_panel_SNPs_and_INDELs.impute_haps.gz: IMPUTE hap file suitable for use with IMPUTE2 combined_panel_SNPs_and_INDELs.impute_legend.gz: IMPUTE legend file suitable for use with IMPUTE2 Relating to Sanger sequences: DEL1_FASTA_sequences.fa: sequences from the DEL1 breakpoint DUP4_FASTA_sequences.fa: sequences from the DUP4 hybrid gene breakpoint sanger_sequence_README.txt: further information for the sanger sequences Relating to summary statistics: Glycophorin_CNVs_summary_statistics.releasenote.pdf: Further details on data meta.sqlite: file for use with sqlite3