Gonçalo R. Abecasis

TL;DR: An adRP locus is described at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and a disease-causing mutation is identified in exon 6 of the KLHL7 gene, suggesting an additional role of the ubiquitin-proteasome protein-degradation pathway in maintaining neuronal health and in disease.

TL;DR: For example, this article examined the genetic association between personality and major depressive disorder (MDD) and bipolar disorder (BD) by applying polygenic scores for neuroticism, extraversion, openness to experience, agreeableness and conscientiousness to both disorders.

TL;DR: It is suggested that few genes of substantial effect exist for schizophrenia in the Afrikaner population, consistent with the previous genealogical tracing studies.

TL;DR: LocusZoom as mentioned in this paper is a JavaScript library for creating interactive web-based visualizations of genetic association study results, which can display one or more traits in the context of relevant biological data (such as gene models and other genomic annotation), and allows interactive refinement of analysis models (by selecting linkage disequilibrium reference panels, identifying sets of likely causal variants, or comparisons to the GWAS catalog).

TL;DR: Using whole-genome sequencing data, it is confirmed that the Iceman is, indeed, most closely related to Sardinians and it is shown that this relationship extends to other individuals from cultural contexts associated with the spread of agriculture during the Neolithic transition, in contrast to individuals from a hunter-gatherer context.