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IGSR specifications


Unique identifier OMICS_00261
Alternative names International Genome Sample Resource, 1000Genomes, 1000 Genomes project
Restrictions to use None
Community driven No
Data access File download, Browse
User data submission Not allowed
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline 1000 Genomes Team

Publications for International Genome Sample Resource

IGSR citations


Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

PMCID: 5853083
PMID: 29540233
DOI: 10.1186/s13256-018-1608-0

[…] ified variants in ATP7B gene were determined by using the following public databases: dbSNP Common 144 of the National Center for Biotechnology Information (NCBI), 1000 Genomes Project phase 3 of The International Genome Sample Resource (IGSR; www.1000genomes.org), Exome Aggregation Consortium (ExAC) version 0.3, and the Iranian Genome Project (https://irangenes.com/data-2/).In silico predictions […]


Identification of Seven Novel Mutations in the Acid Alpha glucosidase Gene in Five Chinese Patients with Late onset Pompe Disease

PMCID: 5830830
PMID: 29451150
DOI: 10.4103/0366-6999.225056
call_split See protocol

[…] the Single Nucleotide Polymorphism database (dbSNP, https://www.ncbi.nlm.nih.gov/projects/SNP/, National Institutes of Health, USA), the 1000 Genomes database (http://www.internationalgenome.org, the International Genome Sample Resource), Exome Sequencing Project (ESP6500, http://evs.gs.washington.edu/EVS/, National Heart, Lung and Blood Institute, USA), Exome Aggregation Consortium (ExAC, http:// […]


Application of geographic population structure (GPS) algorithm for biogeographical analyses of populations with complex ancestries: a case study of South Asians from 1000 genomes project

BMC Genet
PMCID: 5751663
PMID: 29297311
DOI: 10.1186/s12863-017-0579-2
call_split See protocol

[…] ions (N = 378) []. File conversions and manipulations were performed using EIG v4.2 [], VCF tools [] and PLINK []. The VCF files for the Phase 3 release of 1000 Genomes Project were obtained from The International Genome Sample Resource (IGSR) server (http://www.internationalgenome.org/data/). The single nucleotide polymorphisms (SNPs) that passed the default quality control check and were marked […]


Analysis of single nucleotide variants of HFE gene and association to survival in The Cancer Genome Atlas GBM data

PLoS One
PMCID: 5373638
PMID: 28358914
DOI: 10.1371/journal.pone.0174778
call_split See protocol

[…] E gene to determine allele frequency of the general population based on dbSNP Build 142. For comparison, we also downloaded the frequency of SNVs in the HFE gene of 1000Genome using VCF file from The International Genome Sample Resource. We then queried it through tabix. Clinical data such as gender, age, race, ethnicity, histological type, survival and outcome, and HFE gene expression level were […]


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IGSR institution(s)
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK; Public Population Project in Genomics and Society, McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada
IGSR funding source(s)
Wellcome Trust [WT085532, WT104947/Z/14/Z]; European Molecular Biology Laboratory

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