Eric-Wubbo Lameijer

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: In this paper, the authors describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which are constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations.

TL;DR: The Genome of the Netherlands (GoNL) Project is described, in which the whole genomes of 250 Dutch parent-offspring families were sequenced and a haplotype map of 20.4 million single-nucleotide variants and 1.2 million insertions and deletions were constructed.

TL;DR: Already available approaches to construct and use pan-genomes are examined, the potential benefits of future technologies and methodologies are discussed, and open challenges from the vantage point of the above-mentioned biological disciplines are reviewed.