Newborn Sequencing in Genomic Medicine and Public Health

The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine

Estimation of phreatic evaporation in irrigation agriculture using stable isotopes

Agriculture in the Aral Sea basin is the main consumer of water resources and due to the current agricultural management practices inefficient water usage causes huge losses of freshwater resources. There is huge potential to save water resources in order to reach a more efficient water use in irrigated areas. Therefore, research is required to reveal the mechanisms of hydrological fluxes in irrigated areas. This paper focuses on estimation of one of the crucial components in the water balance of irrigated areas - phreatic evaporation (Ep), i.e. evaporation from (shallow) groundwater - using stable isotopes of water. Our main objective was to estimate the rate of phreatic evaporation on sites with different soil texture and ground water tables (GWT) and investigate the relationship between these environmental parameters and the Ep rate. Soil samples were collected in various soil depths from irrigated areas in Ferghana Valley (Uzbekistan). The soil water from these samples was extracted via a cryogenic extraction method and analyzed for the isotopic ratio of the water isotopes (2H and 18O) based on a laser spectroscopy method (DLT 100, Los Gatos USA). A total of 18 soil profiles in fields under cotton have been analyzed. Estimations of phreatic evaporation rates were evaluated in dependence of soil texture and groundwater table. Annual amounts of water losses via phreatic evaporation were calculated between 104 to 349 mm, accounting for 35.1 % of mean irrigation water. Ep rates significantly increase with decreasing depth to GWT. There also exist difference of Ep rate between different soil texture classes with lower rates on sandy and loamy soils as and higher rates on clay. We conclude that site specific groundwater level managing can reduce phreatic losses substantially, providing an efficient and easy adaptable way to improve irrigation and leaching practices

ESTIMATION OF PHREATIC EVAPORATION IN IRRIGATION AGRICULTURE USING STABLE ISOTOPES

Agriculture in the Aral Sea basin is the main consumer of water resources and due to the current agricultural management practices inefficient water usage causes huge losses of freshwater resources. There is huge potential to save water resources in order to reach a more efficient water use in irrigated areas. Therefore, research is required to reveal the mechanisms of hydrological fluxes in irrigated areas. This paper focuses on estimation of one of the crucial components in the water balance of irrigated areas - phreatic evaporation (Ep), i.e. evaporation from (shallow) groundwater - using stable isotopes of water. Our main objective was to estimate the rate of phreatic evaporation on sites with different soil texture and ground water tables (GWT) and investigate the relationship between these environmental parameters and the Ep rate. Soil samples were collected in various soil depths from irrigated areas in Ferghana Valley (Uzbekistan). The soil water from these samples was extracted via a cryogenic extraction method and analyzed for the isotopic ratio of the water isotopes (2H and 18O) based on a laser spectroscopy method (DLT 100, Los Gatos USA). A total of 18 soil profiles in fields under cotton have been analyzed. Estimations of phreatic evaporation rates were evaluated in dependence of soil texture and groundwater table. Annual amounts of water losses via phreatic evaporation were calculated between 104 to 349 mm, accounting for 35.1 % of mean irrigation water. Ep rates significantly increase with decreasing depth to GWT. There also exist difference of Ep rate between different soil texture classes with lower rates on sandy and loamy soils as and higher rates on clay. We conclude that site specific groundwater level managing can reduce phreatic losses substantially, providing an efficient and easy adaptable way to improve irrigation and leaching practices