Examples: histone, BN000065

Project: PRJEB1682

This study is a collaboration between the Gambia Genome Variation Project based at the MRC-LSHTM Unit in Fajara, The Gambia (www.mrc.gm/); The welcome Sanger Institute (www.sanger.ac.uk); and the Centre for Global Genomics and Health, University of Oxford (www.cggh.org/collaborations/mrc-unit-the-gambia). This data is part of a pre-publication release and as such please see www.sanger.ac.uk/datasharing/ for information regarding the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute. The purpose of the project was to support the discovery and understanding of genetic variants that influence human disease. Specifically defined goals were; (a) the discovery of single nucleotide variants at frequencies of 1% or higher in diverse populations, (b) even more comprehensive discovery (variants down to frequencies of 0.1 - 0.5%) in functional gene regions, and (c) Discovery of structural variants, such as copy number variants, other insertions and deletions, and inversions, including sequence-level understanding of breakpoints. This project includes samples collected from trios comprising Mother, Father and one adult child [readme files are available on the ISGR (ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/gambian_genome_variation_project_GRCh37/) website and MalariaGEN websites (www.malariagen.net/data/gambian-genome-variation-project-open-access-data)]. Whole genome sequencing was undertaken using the Illumina Hiseq 2000 platform. This data is freely shared in the expectation that they will be valuable for many researchers. As of April 2019 the following publications provide a first description of the sample collection and use of the data as part of an imputation reference panel that includes the 1000G dataset and other African samples: · Leffler et al. (2017) Resistance to malaria through structural variation of red blood cell invasion receptors. Science, 356: eaam6393 (https://www.ncbi.nlm.nih.gov/pubmed/28522690) · Band et al. (2019) New insights into malaria susceptibility from the genomes of 17,000 individuals from Africa, Asia, and Oceania. BioRxiv (https://www.biorxiv.org/content/10.1101/535898v1) and currently under revision for Nature Communications (April 2019). Acknowledgment: Please cite the following as an acknowledgement in any publication arising from the use of this data: “The authors would like to thank; Muminatou Jallow, Fatou Sissay-Joof, Umberto d'Alessandro from the Gambia Genome Variation Project (MRC-LSHTM Unit in Fajara, The Gambia [http://www.mrc.gm/]); Jim Stalker, Katja Kivinen, Eleanor Drury, Kirk Rockett, Dominic Kwiatkowski plus members of the DNA pipelines Teams from The Wellcome Sanger Institute (www.sanger.ac.uk); Anna Jeffreys, Kate Rowland, Christina Hubbart, Christopher Spencer, Gavin Band, Quang Si Le, Ellen Leffler, Kirk Rockett and Dominic Kwiatkowski from the MRC Centre for Global Genomics and Health, University of Oxford (https://www.cggh.org/collaborations/mrc-unit-the-gambia); and all the participants whole volunteered blood samples for this project.”

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