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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 Start date: 2008 Type: disciplinary/institutional Deposit: Closed
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. The genomes of about 2500 unidentified people from about 25 populations around the world will be 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 will be freely and publicly accessible to researchers worldwide. 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. The sequence and alignment data generated by the 1000genomes project is made available as quickly as possible via their mirrored ftp sites. as possible via their mirrored ftp sites.
ExampleImage 1000 Genomes Project.PNG +
Has default formThis property is a special property in this wiki. Resource  +
Has role 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 +
Label Resource:1000 Genomes: A Deep Catalog of Human Genetic Variation  +
Modification dateThis property is a special property in this wiki. 10 June 2014 18:35:41  +
ModifiedDate 10 June 2014  +
Page has default formThis property is a special property in this wiki. Resource  +
PublicationLink  +
RelatedTo Resource:OMICtools +, +
Species Human +
SuperCategory Resource  +
Synonym International 1000 Genomes Project  +, 1000 Genomes Project  +
Categories Resource
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Resource:1000 Genomes Project and AWS + Is part of
Resource:ART +, Resource:BioSample Database at EBI +, Resource:MOSAIK +, Resource:SNAP - SNP Annotation and Proxy Search + RelatedTo


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