Anthony Marcketta

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: Exome-wide association analyses of EHR-derived lipid values, newly implicating rare predicted LoFs, and deleterious missense variants in G6PC in association with triglyceride levels found associations supporting the majority of therapeutic targets for lipid lowering.

TL;DR: The release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants, illustrating the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes and demonstrating the value of genome sequencing in large population-based studies.

TL;DR: A calibrated phylogenetic tree is constructed on the basis of binary single-nucleotide variants and the more complex variants onto it, estimating the number of mutations for each class and shows bursts of extreme expansion in male numbers that have occurred independently among the five continental superpopulations examined.