Copy number variants (CNVs) represent major etiologic factors in rare genetic diseases. Current clinical CNV interpretation workflows require extensive back-and-forth with multiple tools and databases. This increases complexity and time burden, potentially resulting in missed genetic diagnoses. We present the Suite for CNV Interpretation and Prioritization (SCIP), a software package for the clinical interpretation of CNVs dete...

Snow cover presence, duration, properties, and water amount play a major role in Earth's climate system through its impact on the surface energy budget. Snow cover conditions and trends (1979–2014) were simulated for South America – for the entire Andes Cordillera. Recent data sets and SnowModel developments allow relatively high‐resolutions of 3‐h time step and 4‐km horizontal grid increment for this domain. US Geological Sur...

Snow cover extent, duration, and properties were simulated (1979/1980–2013/2014) for the Rio Olivares Basin (548 km 2 ) in central Chilean Andes, in an effort to understand conditions and trends (linear) at a basin scale. The National Aeronautics and Space Administration Modern‐Era Retrospective Analysis for Research and Applications products, together with the snow modelling software package SnowModel allowed simulations of f...

Critical to conservation efforts and other investigations at low taxonomic levels, DNA sequence data offer important insights into the distinctiveness, biogeographic partitioning and evolutionary histories of species. The resolving power of DNA sequences is often limited by insufficient variability at the intraspecific level. This is particularly true of studies involving plant organelles, as the conservative mutation rate of...

In arctic tundra, shrubs can significantly modify the distribution and physical characteristics of snow, influencing the exchanges of energy and moisture between terrestrial ecosystems and the atmosphere from winter into the growing season. These interactions were studied using a spatially distributed, physically based modelling system that represents key components of the land–atmosphere system. Simulations were run for 4 yea...

Summary This paper summarizes and analyses available data on the surface energy balance of Arctic tundra and boreal forest. The complex interactions between ecosystems and their surface energy balance are also examined, including climatically induced shifts in ecosystem type that might amplify or reduce the effects of potential climatic change. High latitudes are characterized by large annual changes in solar input. Albedo dec...

DNA isolated and amplified from higher plants may originate from symbiotic microbes occupying plant tissues. A recent report on the phylogeny of Picea contained sequence data that upon later analysis proved to originate from filamentous ascomycetes. Isolates of endophytic fungi from Picea foliage collected from the same location as the original samples were examined to identify the source of the contaminating DNA. The ITS regi...