Search for: All records

Given the pleiotropic nature of coding sequences and that many loci exhibit multiple disease associations, it is within non-coding sequence that disease-specificity likely exists. Here, we focus on joint disorders, finding among replicated loci, thatGDF5exhibits over twenty distinct associations, and we identify causal variants for two of its strongest associations, hip dysplasia and knee osteoarthritis. By mapping regulatory regions in joint chondrocytes, we pinpoint two variants (rs4911178; rs6060369), on the same risk haplotype, which reside in anatomical site-specific enhancers. We show that both variants have clinical relevance, impacting disease by altering morphology. By modeling each variant in humanized mice, we observe joint-specific response, correlating withGDF5expression. Thus, we uncouple separate regulatory variants on a common risk haplotype that cause joint-specific disease. By broadening our perspective, we finally find that patterns of modularity atGDF5are also found at over three-quarters of loci with multiple GWAS disease associations.

It is a great challenge to obtain broadband response perovskite photodetectors (PPDs) due to the relatively large bandgaps of the most used methylammonium lead halide perovskites. The response range of the reported PPDs is limited in the ultraviolet–visible range. Here, highly sensitive PPDs are successfully fabricated with low bandgap (≈1.25 eV) (FASnI₃)_0.6(MAPbI₃)_0.4perovskite as active layers, exhibiting a broadband response from 300 to 1000 nm. The performance of the PPDs can be optimized by adjusting the thicknesses of the perovskite and C₆₀layers. The optimized PPDs with 1000 nm thick perovskite layer and 70 nm thick C₆₀layer exhibit an almost flat external quantum efficiency (EQE) spectrum from 350 to 900 nm with EQE larger than 65% under −0.2 V bias. Meanwhile, the optimized PPDs also exhibit suppressed dark current of 3.9 nA, high responsivity (R) of over 0.4 A W⁻¹, high specific detectivity (D*) of over 10¹²Jones in the near‐infrared region under −0.2 V. Such highly sensitive broadband response PPDs, which can work well as self‐powered conditions, offer great potential applications in multicolor light detection.