Daniel G. MacArthur

TL;DR: Phenotypic annotation of all human genes; development of bioinformatic tools and analytic methods; exploration of non-Mendelian modes of inheritance including reduced penetrance, multilocus variation, and oligogenic inheritance; construction of allelic series at a locus; enhanced data sharing worldwide; and integration with clinical genomics are explored.

TL;DR: These networks are built that additionally capture the regulation of relative isoform abundance and splicing, along with tissue-specific connections unique to each of a diverse set of tissues, and provide an improved understanding of the complex relationships of the human transcriptome across tissues.

TL;DR: Evidence that this genetic variant, R577X, is strongly associated with elite athlete status and with normal variation in human muscle strength and sprinting speed is reviewed.

TL;DR: Exome sequence data from 60,706 individuals is analyzed to make genome-wide estimates of selection against heterozygous loss of gene function and corresponding Bayesian estimates for individual genes are provided.

TL;DR: Almost 86 million publicly available profiles from a crowd-sourced genealogy website were used to examine the genetic architecture of human longevity and migration patterns and to provide insights into the geographical dispersion of families.