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Category:Resource:1000 Genomes: A Deep Catalog of Human Genetic Variation
Abbrev 1000 Genomes  +
Availability Free +, Public +, Restrictions apply +, Http:// +
Comment Type: disciplinary/institutional <br /> Deposit: Closed Type: Government <br /> Participant countries: International <br /> Country started: International <br /> Number of partners: 75 <br /> Start date: 2008
CurationStatus curated  +
DefiningCitation  +
Definition International collaboration producing an e International collaboration producing an extensive public catalog of human genetic variation, including SNPs and structural variants, and their haplotype contexts, in an effort to provide a foundation for investigating the relationship between genotype and phenotype. The genomes of about 2500 unidentified people from about 25 populations around the world were sequenced using next-generation sequencing technologies. Redundant sequencing on various platforms and by different groups of scientists of the same samples can be compared. The results of the study are freely and publicly accessible to researchers worldwide. The consortium identified the following populations whose DNA will be sequenced: Yoruba in Ibadan, Nigeria; Japanese in Tokyo; Chinese in Beijing; Utah residents with ancestry from northern and western Europe; Luhya in Webuye, Kenya; Maasai in Kinyawa, Kenya; Toscani in Italy; Gujarati Indians in Houston; Chinese in metropolitan Denver; people of Mexican ancestry in Los Angeles; and people of African ancestry in the southwestern United States. The goal Project is to find most genetic variants that have frequencies of at least 1% in the populations studied. Sequencing is still too expensive to deeply sequence the many samples being studied for this project. However, any particular region of the genome generally contains a limited number of haplotypes. Data can be combined across many samples to allow efficient detection of most of the variants in a region. The Project currently plans to sequence each sample to about 4X coverage; at this depth sequencing cannot provide the complete genotype of each sample, but should allow the detection of most variants with frequencies as low as 1%. Combining the data from 2500 samples should allow highly accurate estimation (imputation) of the variants and genotypes for each sample that were not seen directly by the light sequencing. All samples from the 1000 genomes are available as lymphoblastoid cell lines (LCLs) and LCL derived DNA from the Coriell Cell Repository as part of the NHGRI Catalog. The sequence and alignment data generated by the 1000genomes project is made available as quickly as possible via their mirrored ftp sites. <br /> p://
ExampleImage 1000 Genomes Project.PNG +
Has default formThis property is a special property in this wiki. Resource  +
Has role Consortium +, Database +
Id nlx_143819  +
Is part of Wellcome Trust Sanger Institute; Hinxton; United Kingdom +, Harvard Medical School; Massachusetts; USA +, Resource:Broad Institute +, Resource:NCBI +, National Human Genome Research Institute +, Resource:European Bioinformatics Institute +
Keywords Genetic variation +, Gene +, Next-generation sequencing +, Sequence +, Alignment +, Genome +, Single-nucleotide polymorphism +, Structural variant +, Haplotype +, Genome-wide association study +, Pharmacology +, Genetics +, Biomarker +, Consortium +, Data sharing +, Genotype +, Phenotype +
Label Resource:1000 Genomes: A Deep Catalog of Human Genetic Variation  +
Listedby Resource:OMICtools +, +, Resource:Consortia-pedia +
Modification dateThis property is a special property in this wiki. 21 March 2015 02:02:52  +
ModifiedDate 21 March 2015  +
Page has default formThis property is a special property in this wiki. Resource  +
PublicationLink  +
Species Human +
SuperCategory Resource  +
Supporting Agency Wellcome Trust Sanger Institute; Hinxton; United Kingdom +, BGI; Shenzhen; China +, National Human Genome Research Institute +, 454 Life Sciences Roche +, Life Technologies +, Illumina +
Synonym International 1000 Genomes Project  +, 1000 Genomes Project  +
Twitter 1000genomes  +
Uses Resource:NHGRI Sample Repository for Human Genetic Research +
Xref OMICS_00261  +
Categories Resource
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Resource:1000 Genomes Project and AWS + Is part of
Resource:ART +, Resource:MOSAIK +, Resource:SNAP - SNP Annotation and Proxy Search + RelatedTo
Resource:NHGRI Sample Repository for Human Genetic Research + Usedby
Resource:BioSample Database at EBI + Uses


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