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Varekar, Vikas; Karmakar, Subhankar; Jha, Ramakar The design of surface water quality sampling location is a crucial decision-making process for rationalization of monitoring network.
The quantity, quality, and types of available dataset watershed characteristics and water quality data may affect the selection of appropriate design methodology.
KUIDAS LOUISE HAY TABELIGA TÖÖTADA?
However, their performance may vary significantly with quantity, quality, and types of available dataset. In this paper, an attempt has been made to evaluate performance of these techniques by accounting the effect of seasonal variation, under a situation of limited water quality data but extensive watershed characteristics information, as continuous and consistent river water quality data is usually difficult to obtain, whereas watershed information may be made available through application of geospatial techniques.
The monitoring was carried out at 16 sampling locations. Less variation in the number and locations of designed sampling sites were obtained by both techniques, which shows stability of results.
A geospatial analysis has also been carried out to check the significance of designed sampling location with respect to river basin characteristics and land use of the study area. Both methods are equally efficient; however, modified Sanders Science. Here, we report the identification of a distinct puha harjade psuhhosomatics due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 TLK2 in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations.
Analysis of cell lines from puha harjade psuhhosomatics affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects.
HAIGUSTE LOUISE HAY TABEL
Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types missense and C-terminal truncating.
This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype.
This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2.
Copyright © The Authors. Published by Elsevier Inc. All rights reserved.