Christine Beiswanger

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: If the dearth of genomics research involving Africans persists, the potential health and economic benefits emanating from genomic science may elude an entire continent.

TL;DR: A list of putative LCL‐specific changes (affecting regions such as immunoglobulin loci) that is available as a community resource is created to address questions in population genomics, mechanisms of disease, and pharmacogenomics.

TL;DR: The reference and quality control materials for Duchenne and Becker muscular dystrophies (DMD/BMD) diagnostic and carrier genetic testing are not commercially available.