Olafur Th Magnusson

TL;DR: The insights gained from sequencing the whole genomes of Icelanders to a median depth of 20× provide a study design that can be used to determine how variation in the sequence of the human genome gives rise to human diversity.

TL;DR: Increased sequence diversity and linkage disequilibrium of C>G variants within regions affected by excess maternal mutations indicate that the underlying mutational process has persisted in humans for thousands of years.

TL;DR: Through whole-genome sequencing of 2,630 Icelanders and imputation into 11,114 Icelandic cases and 267,140 controls followed by testing in Danish and Iranian samples, 4 previously unreported variants affecting risk of type 2 diabetes (T2D) are discovered.

TL;DR: This work sequenced the whole genomes of 2,636 Icelanders and imputed the sequence variants identified in this set into 101,584 additional chip-genotyped and phased Icelanders to create a catalog of autosomal genes that are completely knocked out in humans by rare loss-of-function mutations.

TL;DR: The ages of puberty, first sexual intercourse and first birth signify the onset of reproductive ability, behavior and success, respectively and Mendelian randomization analyses infer causal influences of earlier puberty timing on earlier firstSexual intercourse, earlier first birth and lower educational attainment.