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In 2010, the project finished its pilot phase, which was described in detail in a publication in the journal Nature. [1] In 2012, the sequencing of 1092 genomes was announced in a Nature publication. [2] In 2015, two papers in Nature reported results and the completion of the project and opportunities for future research. [3] [4]
The WHG has been involved in many international statistical genetics advances including the Wellcome Trust Case Control Consortia (WTCCC, WTCCC2), the 1000 Genomes Project and the International HapMap Project. [10]
These technologies are enabling ambitious genome sequencing endeavours, such as the 1000 Genomes Project and 1001 (Arabidopsis thaliana) Genomes Project. The storage and transfer of the tremendous amount of genomic data have become a mainstream problem, motivating the development of high-performance compression tools designed specifically for ...
For a long time PHASE [3] was the most accurate method. PHASE was the first method to utilize ideas from coalescent theory concerning the joint distribution of haplotypes. This method used a Gibbs sampling approach in which each individuals haplotypes were updated conditional upon the current estimates of haplotypes from all other samples.
1000 Genomes Project: launched in January 2008. The genomes of more than a thousand anonymous participants from a number of different ethnic groups were analyzed and made publicly available. EggNOG Database: a hierarchical, functionally and phylogenetically annotated orthology resource based on 5090 organisms and 2502 viruses. It provides ...
In January 2008, the launch of the 1000 Genomes Project, a collaboration with scientists around the globe, signalled an effort to sequence the genomes of 1000 individuals in order to create the "most detailed map of human genetic variation to support disease studies". [25]
[3] The SRA has grown rapidly since 2008. [4] As of 2011, most SRA sequence data was produced by Illumina's Genome Analyzer. [5] The volume of data deposited in the Sequence Read Archive has grown rapidly. As of September 2010, 65% of the SRA was human genomic sequence, with another 16% relating to human metagenome sequence reads. [6]
In genetics, imputation is the statistical inference of unobserved genotypes. [1] It is achieved by using known haplotypes in a population, for instance from the HapMap or the 1000 Genomes Project in humans, thereby allowing to test for association between a trait of interest (e.g. a disease) and experimentally untyped genetic variants, but whose genotypes have been statistically inferred ...