作者
1000 Genomes Project Consortium
发表日期
2010/10/10
期刊
Nature
卷号
467
期号
7319
页码范围
1061
出版商
Europe PMC Funders
简介
The 1000 Genomes Project aims to provide a deep characterisation of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. We present results of the pilot phase of the project, designed to develop and compare different strategies for genome wide sequencing with high throughput sequencing platforms. We undertook three projects: low coverage whole genome sequencing of 179 individuals from four populations, high coverage sequencing of two mother-father-child trios, and exon targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million SNPs, 1 million short insertions and deletions and 20,000 structural variants, the majority of which were previously undescribed. We show that over 95% of the currently accessible variants found in any …
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