Identification of Medically Actionable Secondary Findings in the 1000 Genomes

The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing laboratories return secondary findings in 56 genes associated with medically actionable conditions. Our goal was to apply a systematic, stringent approach consistent with clinical standards to estimate the prevalence of pathogenic variants associated with such conditions using a diverse sequencing reference sample. Candidate variants in the 56 ACMG genes were selected from Phase 1 of the 1000 Genomes dataset, which contains sequencing information on 1,092 unrelated individuals from across the world. These variants were filtered using the Human Gene Mutation Database (HGMD) Professional version and defined parameters, appraised through literature review, and examined by a clinical laboratory specialist and expert physician. Over 70,000 genetic variants were extracted from the 56 genes, and filtering identified 237 variants annotated as disease causing by HGMD Professional. Literature review and expert evaluation determined that 7 of these variants were pathogenic or likely pathogenic. Furthermore, 5 additional truncating variants not listed as disease causing in HGMD Professional were identified as likely pathogenic. These 12 secondary findings are associated with diseases that could inform medical follow-up, including cancer predisposition syndromes, cardiac conditions, and familial hypercholesterolemia. The majority of the identified medically actionable findings were in individuals from the European (5/379) and Americas (4/181) ancestry groups, with fewer findings in Asian (2/286) and African (1/246) ancestry groups. Our results suggest that medically relevant secondary findings can be identified in approximately 1% (12/1092) of individuals in a diverse reference sample. As clinical sequencing laboratories continue to implement the ACMG recommendations, our results highlight that at least a small number of potentially important secondary findings can be selected for return. Our results also confirm that understudied populations will not reap proportionate benefits of genomic medicine, highlighting the need for continued research efforts on genetic diseases in these populations.     

Sharp intense line in the bioluminescence emission of the firefly

Numerous investigations have been carried out on the spectral distribution of the light of different species of fireflies. Here we record the emission spectrum of the Indian species of the firefly Luciola praeusta Kiesenwetter 1874 (Coleoptera : Lampyridae : Luciolinae) on a color film. Green and red color-sectors, with an intense yellow one in between, appear in this spectrum. Intensity profile of this spectrum reveals a hitherto undetected strong narrow yellow line, which lies within the full-width-at-half maximum (FWHM) of the intensity profile. The spectrum recorded in a high-resolution spectrometer confirms the presence of this sharp intense line. This finding lends support to an earlier drawn analogy between the in vivo emission of the firefly and laser light.     

Surface tension prey transport in shorebirds: how widespread is it?

Surface tension prey transport is a feeding mechanism employing the surface tension of water surrounding prey to transport prey from bill tip to mouth. Previously, it has been demonstrated only in the Red-necked Phalarope Phalaropus lobatus. On the basis of a model of the bill morphology necessary for this method of prey transport, I suggest that many species of shorebird should be capable of surface tension feeding. Laboratory investigations of the feeding mechanics of Wilson's Phalarope Phalaropus tricolor , Western Sandpiper Calidris mauri and Least Sandpiper Calidris minutilla demonstrated that all three use surface tension transport of prey when feeding in water. I examined interspecific variation in the performance of this feeding mechanism with a high-speed video system and a customized motion analysis system. Exploratory analyses indicated significant interspecific variation in distance the prey is transported per cycle of mandibular spreading, gape increase per unit transport, speed of transport, total number of cycles necessary to complete transport and total time to complete transport. The calidrid sandpipers also occasionally used other feeding mechanisms in conjunction with surface tension transport of prey. The discovery that these sandpipers, which normally obtain prey by probing, are capable of surface tension transport of prey implies that the capacity to employ this feeding mechanism may be widespread in the Scolopacidae and may have been a significant factor in the evolutionary radiation of phalaropes into aquatic environments.     

Phytochrome A regulates red-light induction of phototropic enhancement in Arabidopsis.

Phytochrome A (phyA) and phytochrome B photoreceptors have distinct roles in the regulation of plant growth and development. Studies using specific photomorphogenic mutants and transgenic plants overexpressing phytochrome have supported an evolving picture in which phyA and phytochrome B are responsive to continuous far-red and red light, respectively. Photomorphogenic mutants of Arabidopsis thaliana that had been selected for their inability to respond to continuous irradiance conditions were tested for their ability to carry out red-light-induced enhancement of phototropism, which is an inductive phytochrome response. We conclude that phyA is the primary photoreceptor regulating this response and provide evidence suggesting that a common regulatory domain in the phyA polypeptide functions for both high-irradiance and inductive phytochrome responses.     

Fish predation on epiphytic microcrustacea in Tivoli South Bay,a Hudson River tidal freshwater wetland

The littoral microcrustacean fauna of Tivoli South Bay was studied from July to September, 1989. The effects of fish predation on microcrustacean densities were tested in a short-term predator exclusion experiment. Fish were excluded from water chestnut (Trapa natans) plots in four screened exclosures. An equal number of open cages allowed foraging. Fish predation did not have a significant effect on densities of ostracods or other microcrustaceans. Ostracod densities increased in cages throughout the experimental period, whereas cladoceran and copepod densities decreased in both treatments. Gut contents analysis of banded killifish (Fundulus diaphanus) revealed that ostracods and other microcrustaceans were commonly ingested by larval, juvenile, and adult killifish utilizing T. natans as habitat. These results suggest that ostracods and other microcrustacean epifauna associated with T. natans may represent an important trophic link in the tidal freshwater wetlands of the Hudson River Estuary. Deceased