Daniel A. King

TL;DR: In this paper , the authors present results from systematic association analyses of 4,529 phenotypes using single-variant and gene tests of 394,841 individuals in the UK Biobank with exome-sequence data.

TL;DR: Four new autosomal recessive disorders are identified by integrating Mendelian filtering with statistical assessments of the likelihood of sampling the observed genotypes from the general population and the phenotypic similarity of patients with recessive variants in the same candidate gene.

TL;DR: This tool is the first to read VCF-formatted genotypes, to perform integrated copy number filtering, and to use a statistical test inherently robust for use in platforms of varying genotyping density and noise characteristics.

TL;DR: The most significant factors influencing the diagnostic yield of de novo mutations are the sex of the affected individual, the relatedness of their parents and the age of both father and mother as discussed by the authors.