Karla Sandoval

TL;DR: 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, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.

TL;DR: The 1000 Genomes Project as mentioned in this paper provided a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and reported the 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.

TL;DR: The value of diverse, multi-ethnic participants in large-scale genomic studies is demonstrated and evidence of effect-size heterogeneity across ancestries for published GWAS associations, substantial benefits for fine-mapping using diverse cohorts and insights into clinical implications are shown.

TL;DR: Pre-Columbian genetic substructure is recapitulated in the indigenous ancestry of admixed mestizo individuals across the country, and two independently phenotyped cohorts of Mexicans and Mexican Americans showed a significant association between subcontinental ancestry and lung function.

TL;DR: It is demonstrated that the ancestral components in admixed genomes can be traced back to distinct sub-continental source populations with far greater resolution than previously thought, even when limited pre-Columbian Caribbean haplotypes have survived.