The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.
Rapid and sensitive pathogen detection cuts off routes of transmission and improves patient outcomes by enabling early treatment and appropriate antibiotic usage. 1 Several rapid methods having different adaptation, cost, sensitivity, and specificity, have been developed for pathogen detection. 2 Rapid pathogen detection, based on detection of nucleic acids via polymerase chain reaction (PCR), is often costly, requires specific equipment, and must be conducted in the laboratory environment. 3 Sequencing technology is still being perfected and cannot be directly used for clinical diagnosis. 4 This highlights the urgent need for a low-cost, simple, and highly
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