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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]
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.
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 ...
[2] [3] It was conceived as a large scale DNA sequencing centre to participate in the Human Genome Project, and went on to make the largest single contribution to the gold standard sequence of the human genome. From its inception the institute established and has maintained a policy of data sharing, and does much of its research in collaboration.
The $1,000 genome refers to an era of predictive and personalized medicine during which the cost of fully sequencing an individual's genome is roughly one thousand USD. [ 1 ] [ 2 ] It is also the title of a book by British science writer and founding editor of Nature Genetics , Kevin Davies. [ 3 ]
[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 ...