Mapping and sequencing of structural variation from eight human genomes

Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes. Here we explore variation on an intermediate scale--particularly insertions, deletions and inversions affecting from a few thousand to a few million base pairs. We employed a clone-based method to interrogate this intermediate structural variation in eight individuals of diverse geographic ancestry. Our analysis provides a comprehensive overview of the normal pattern of structural variation present in these genomes, refining the location of 1,695 structural variants. We find that 50% were seen in more than one individual and that nearly half lay outside regions of the genome previously described as structurally variant. We discover 525 new insertion sequences that are not present in the human reference genome and show that many of these are variable in copy number between individuals. Complete sequencing of 261 structural variants reveals considerable locus complexity and provides insights into the different mutational processes that have shaped the human genome. These data provide the first high-resolution sequence map of human structural variation--a standard for genotyping platforms and a prelude to future individual genome sequencing projects.     

Electrical discharge from a thundercloud top to the lower ionosphere

For over a century, numerous undocumented reports have appeared about unusual large-scale luminous phenomena above thunderclouds and, more than 80 years ago, it was suggested that an electrical discharge could bridge the gap between a thundercloud and the upper atmosphere. Since then, two classes of vertically extensive optical flashes above thunderclouds have been identified-sprites and blue jets. Sprites initiate near the base of the ionosphere, develop very rapidly downwards at speeds which can exceed 107 m s-1 (ref. 15), and assume many different geometrical forms. In contrast, blue jets develop upwards from cloud tops at speeds of the order of 105 m s-1 and are characterized by a blue conical shape. But no experimental data related to sprites or blue jets have been reported which conclusively indicate that they establish a direct path of electrical contact between a thundercloud and the lower ionosphere. Here we report a video recording of a blue jet propagating upwards from a thundercloud to an altitude of about 70 km, taken at the Arecibo Observatory, Puerto Rico. Above an altitude of 42 km-normally the upper limit for blue jets and the lower terminal altitude for sprites-the flash exhibited some features normally observed in sprites. As we observed this phenomenon above a relatively small thunderstorm cell, we speculate that it may be common and therefore represent an unaccounted for component of the global electric circuit.     

A Taylor vortex analogy in granular flows

Fluids sheared between concentric rotating cylinders undergo a series of three-dimensional instabilities. Since Taylor's archetypal 1923 study, these have proved pivotal to understanding how fluid flows become unstable and eventually undergo transitions to chaotic or turbulent states. In contrast, predicting the dynamics of granular systems--from nano-sized particles to debris flows--is far less reliable. Under shear these materials resemble fluids, but solid-like responses, non-equilibrium structures and segregation patterns develop unexpectedly. As a result, the analysis of geophysical events and the performance of largely empirical particle technologies might suffer. Here, using gas fluidization to overcome jamming, we show experimentally that granular materials develop vortices consistent with the primary Taylor instability in fluids. However, the vortices observed in our fluidized granular bed are unlike those in fluids in that they are accompanied by novel mixing-segregation transitions. The vortices seem to alleviate increased strain by spawning new vortices, directly modifying the scale of kinetic interactions. Our observations provide insights into the mechanisms of shear transmission by particles and their consequent convective mixing.