Resistance to malaria through structural variation of red blood cell invasion receptors

19 May 2017

Leffler EM, Band G, Busby GBJ, Kivinen K, Le SQ, Clarke GM, Bojang KA, Conway DJ, Jallow M, Sisay-Joof F, Bougouma EC, Mangano VD, Modiano D, Sirima SB, Achidi E, Apinjoh TO, Marsh K, Ndila CM, Peshu N, Williams TN, Drakeley C, Manjurano A, Hugh Reyburn H, Eleanor Riley E, Kachala D, Molyneux M, Nyirongo V, Taylor T, Thornton N, Tilley L, Grimsley S, Drury E, Stalker J, Cornelius VJ, Hubbart C, Jeffreys AE, Rowlands K, Rockett KA, Spencer CCA, Kwiatkowski DP, Malaria Genomic Epidemiology Network

Science 2017 DOI: 10.1126/science.aam6393

This page provides links to the data resources accompanying this paper.

Data resources

A haplotype reference panel across the glycophorin region.
Glycophorin CNV genotypes for 1000 Genomes individuals.
Summary statistics for association between severe malaria and variants in the glycophorin region.
Sequence data for two DUP4/Dantu NE carriers (ENA accession number PRJEB20081).
A multiple sequence alignment of the three units of the glycophorin segmental duplication in the human reference (GRCh37).
Sanger sequence data across breakpoints for DEL1 and DUP4.
Scripts used to identify copy number variation from coverage and simulate variant formation.

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The data underpinning these resources are drawn from MalariaGEN Consortial Project 1 and Consortial Project 3, from collaborations with the MRC Unit The Gambia and the International Blood Group Reference Laboratory, as well as publicly available data from the 1000 Genomes project.