Film thickness dependency of the emission colors of PPE-PPVs in inkjet printed libraries

The influence of side chains, film thickness, and thermal treatment of .pi.-conjugated polymers on emission colors, was studied. The resp. thickness libraries of six alkoxy-substituted poly(p-phenylene ethynylene)-alt-poly(p-phenylene vinylene)s (PPE-PPVs) were prepd. by inkjet printing. The optical properties of the printed libraries were screened utilizing high-throughput methods. The emission colors of the studied polymers strongly depend on the inter-chain interactions which are increased with increasing film thickness and influenced by the side chains. Upon annealing at 70, white emission was obsd. from the printed films

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

The genetic architecture of sporadic congenital heart disease (CHD) is characterized by enrichment in damaging de novo variants in chromatin-modifying genes. To test the hypothesis that gene pathways contributing to de novo forms of CHD are distinct from those for recessive forms, we analyze 2391 whole-exome trios from the Pediatric Cardiac Genomics Consortium. We deploy a permutation-based gene-burden analysis to identify damaging recessive and compound heterozygous genotypes and disease genes, controlling for confounding effects, such as background mutation rate and ancestry. Cilia-related genes are significantly enriched for damaging rare recessive genotypes, but comparatively depleted for de novo variants. The opposite trend is observed for chromatin-modifying genes. Other cardiac developmental gene classes have less stratification by mode of inheritance than cilia and chromatin-modifying gene classes. Our analyses reveal dominant and recessive CHD are associated with distinct gene functions, with cilia-related genes providing a reservoir of rare segregating variation leading to CHD