Influence of autozygosity on common disease risk across the phenotypic spectrum.

Autozygosity is associated with rare Mendelian disorders and clinically relevant quantitative traits. We investigated associations between the fraction of the genome in runs of homozygosity (F) and common diseases in Genes & Health (n = 23,978 British South Asians), UK Biobank (n = 397,184), and 23andMe. We show that restricting analysis to offspring of first cousins is an effective way of reducing confounding due to social/environmental correlates of F.

Introduction of dynamic rate-of-force development scaling factor in progressive drop jumps.

Rapid force generation across submaximal levels has been evaluated with the rate of force development scaling factor (RFD-SF) in different isometric tasks, while such measurement was still not verified in dynamic tasks. Our study was designed to evaluate the feasibility of the RFD-SF in dynamic drop jump (DJ) task (RFD-SF). A total of 55 young athletes performed isometric plantarflexion at different submaximal intensities and 60 DJs (6 different drop heights).

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.

Purpose: In this study we aimed to establish the genetic cause of a myriad of cardiovascular defects prevalent in individuals from a genetically isolated population, who were found to share a common ancestor in 1728.

Methods: Trio genome sequencing was carried out in an index patient with critical congenital heart disease (CHD); family members had either exome or Sanger sequencing. To confirm enrichment, we performed a gene-based association test and meta-analysis in two independent validation cohorts: one with 2685 CHD cases versus 4370 .

Author Correction: Genetic mapping of cell type specificity for complex traits.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Author Correction: A global overview of pleiotropy and genetic architecture in complex traits.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.