Qibin Li

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: Using low-coverage whole-genome sequencing of 5,303 Chinese women with recurrent MDD selected to reduce phenotypic heterogeneity, and 5,337 controls screened to exclude MDD, two loci contributing to risk of MDD on chromosome 10 are identified: one near the SIRT1 gene and the other in an intron of the LHPP gene.

TL;DR: A method for analyzing the cancer genome at a single-cell nucleotide level is described and essential thrombocythemia-related candidate mutations such as SESN2 and NTRK1 are identified, which may be involved in neoplasm progression.

TL;DR: Analysis across the genome of patterns of DNA methylation reveals a rich landscape of allele-specific epigenetic modification and consequent effects on allele- specific gene expression.

TL;DR: Exome sequencing of 200 individuals from Denmark with targeted capture of 18,654 coding genes and sequence coverage of each individual exome at an average depth of 12-fold is reported, suggesting that deleterious substitutions are primarily recessive.