Natural isotopes support groundwater origin as a driver of mire type and biodiversity in Slitere National Park, Latvia

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection. METHODS: We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research analysis. RESULTS: Diagnostic yields varied among family structures and were highest in family trios (both parents and a proband) and families with larger pedigrees. Diagnostic yields were much higher for disorders likely to have a monogenic cause (35%) than for disorders likely to have a complex cause (11%). Diagnostic yields for intellectual disability, hearing disorders, and vision disorders ranged from 40 to 55%. We made genetic diagnoses in 25% of the probands. A total of 14% of the diagnoses were made by means of the combination of research and automated approaches, which was critical for cases in which we found etiologic noncoding, structural, and mitochondrial genome variants and coding variants poorly covered by exome sequencing. Cohortwide burden testing across 57,000 genomes enabled the discovery of three new disease genes and 19 new associations. Of the genetic diagnoses that we made, 25% had immediate ramifications for clinical decision making for the patients or their relatives. CONCLUSIONS: Our pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases. (Funded by the National Institute for Health Research and others.)

VEGETATION AND HYDROLOGY IN A SPRING MIRE COMPLEX IN WESTERN POMERANIA, POLAND

The vegetation of one of the largest spring mires in Poland has been studied with special regard to hydrological conditions and stratigraphic development of the mire. Despite its biotic richness the mire is in a slow state of deterioration, initiated by man several hundred years ago. Evidence has been found that drainage occurred in an originally treeless percolating mire (sloping fen), possibly as a result of hydrological changes in a lower lying lake. The development of the springs was probably a reaction to the increased resistance to water flow in the percolating mire, forcing the groundwater to discharge high up at the sand borders. The eroding effect of the spring water courses increased the drainage and, although the springs also provided new habitats for rare moss communities, a considerable eutrophication in the present spring alder wood can be noticed

A comparison of fens in natural and artificial landscapes

Fens depend on inputs of groundwater or surface water. In Western Europe especially soligenous fens, receiving groundwater, are threatened by human hydrological intervention. We demonstrate the impact of artificial versus natural hydrologies on such fens by comparing 3 case areas: the Biebrza valley (reference) and the Gorecht and Vecht river plains (both reclaimed and drained). The patterns found in the fairly undisturbed Biebrza area suggest local water quality is governed by a strong regional groundwater flow emerging in the fen near the valley margins and seeping through it down to the river. Hence water quality gradients are smooth: there is little variation in water type over large distances. The pattern is determined by the natural geomorphology. In the reclaimed Vecht and Gorecht river plains large differences exist at short distance. Regional water flow from the adjacent ridges into the plains is weak here and governed primarily by water management (polders and pumping wells). However, the relations between specific water types and fen species and communities in this artificial pattern are quite similar to those found in the natural landscape. Low-productive rich fens are fed by calcium-rich and base-rich, nutrient-poor groundwater in both cases. While conservation of such rich fens is served best by maintaining the natural groundwater flow, some opportunities for restoration with an artificial hydrology are discussed

The biocenotic values of Slitere National Park, Latvia: With special reference to inter-dune mires

Inter-dune wetlands in Europe harbour many Red List species because they are very nutrient-poor ecosystems. Most of these wetlands are geologically very young and no or little peat formation has occurred. In Slitere National Park the numerous inter-dune wetlands are relatively old, up to 4500 years old, and most mire communities are peat forming and they are well preserved. However, the hydrological systems that have conserved the mires are largely unknown. In the present study we analysed 128 vegetation relevees of dune mires in order to assess the variation in ecological mire types. We also carried out several short-time studies to get an insight into the peat development and hydrological conditions that sustain the mires. We describe peat profiles and measured temperature profiles and electrical conductivity in 26 dune valleys. We distinguished three main vegetation units and ten sub-units, representing various stages in peat formation. Based on electrical conductivity and temperature profiles we hypothesised that the mires were sustained by both local and more regional groundwater flows, of which the latter were possibly disturbed by anthropogenic influences, mainly outside the National Park. The importance of the Park was evaluated by comparing it to species lists of wetlands from all countries bordering the Baltic Sea. On the European scale the inter-dune wetlands of Slitere National Park are very important because they represent well-developed examples of mire formation on a landscape scale, which elsewhere in most of Europe are rare or have become extinct due to intensive land use