Exome-wide
A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria
... Received: 7 August 2018 / Accepted: 22 October 2018 / Published online: 13 December 2018 Abstract Aims/hypothesis Identifying rare coding variants associated with albuminuria may open new avenues for preventing chronic ...
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Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy
... OPEN ACCESS Citation: Esslinger U, Garnier S, Korniat A, Proust C, Kararigas G, Mu¨ller-Nurasyid M, et al. (2020) Correction: Exome-wide association study reveals novel susceptibility genes to sporadic ...
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Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects
... the exome-wide stage, the association between Log transformed total, unconjugated, and conjugated bilirubin and genetic variants was determined by applying linear regression analysis and correlation/trend ...
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Exome-wide association study reveals largely distinct gene sets underlying specific resistance to dengue virus types 1 and 3 in Aedes aegypti
... (Gabon) or Cairns (Australia) challenged with DENV-1 and DENV-3. The percentage of DENV-infected mosquitoes at 10 days post exposure is shown as a function of the blood meal titer in log 10 -transformed focus-forming ...
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Using whole-exome sequencing data in an exome-wide association study approach to identify genetic risk factors influencing acute lymphoblastic leukemia response : a focus on asparaginase complications & vincristine-induced peripheral neuropathy
... the wide implementation of TPMT pharmacogenetics-guided protocols around the world to mitigate the toxicity of thiopurines while maintaining the maximum efficacy, this paper also tries to tackle the next important ...
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Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours
... Driver genes. We used MutSigCV version 1.4 to identify genes harbouring more non-synonymous mutations than expected by chance given gene size, sequence context and gene-specific background mutation rates 18 . KIT was ...
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Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing
... probably affecting function had been missed by Sanger sequencing. After exome-wide CNV calling using the CANOES tool, we detected a total of 273 events without any filtration on genes (11.4 per individual ...
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Exome sequencing reveals aberrant signalling pathways as hallmark of treatment-naive anal squamous cell carcinoma
... 2 exome-wide mutational analysis interestingly showed a similar mutational profile in matched pre-, post- chemoradiotherapy and metastatic ASCC samples ...
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Comparative study of statistical methods for detecting association with rare variants in exome-resequencing data
... Genome-wide association studies for complex traits are based on the common disease/common variant (CDCV) and common disease/rare variant (CDRV) assumptions. Under the CDCV hypothesis, classical genome-wide ...
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Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views
... patient’s exome through one test is now less costly than testing a number of specific genes, especially when little is known about the genetic background of the disease, although this analysis does “add layers of ...
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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy
... genes among the 5 genes expected to be the most frequently associated with hypertrophic cardiomyopathy (HCM), because of the absence of mutations in TNNI3 in this cohort. Green corresponds to a larger panel of 60 genes ...
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Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease
... The main limitation of our study is the small sample sizes of both our hypothesis generation and the replication data sets, which partly resulted from our stringent inclusion criteria (high doses of DA, severe ICDs, or ...
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Wide Area Monitoring and Situational Awareness
... disturbances. Wide area control systems (WACS) works under this ...problems. Wide area measurement systems can be extended “deep” into distribution network to allow operators to monitor evolving situations ...
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Factors Affecting Ice Loads on Wide Structures
... Figure 8.10 Measured loads at junction plate no. 4 of the Yamachiche boom We note that all the three data sets show the same rises and falls in applied loads. Using the hypothesis that the applied load is uniform over ...
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Data wrapping on the World Wide Web
... The Generic Screen Scraper generates data wrappers that isolate user from interacting directly with heterogeneous data sources (i.e. SQL and non-SQL) by allowing all que[r] ...
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A consensus protocol for wide area networks
... In an inter-domains communications context, a broad- cast address becomes unreachable if and only if all of the domain members are faulty. If all of these members are crashed, the domain is said to be faulty , ...
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Cluster-Wide Context Switch of Virtualized Jobs
... ABSTRACT Clusters are mostly used through Resources Management Systems (RMS) with a static allocation of resources for a bounded amount of time. Those approaches are known to be insufficient for an efficient use of clusters. ...
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On Wide Aronszajn Trees In The Presence Of Ma
... §5. Embedding wide Aronszajn trees into Aronszajn trees. This section is devoted to the proof of the following theorem: Theorem 5.1. For every tree T ∈ T , there is a ccc forcing P = P(T ) and a family H = H(T ) ...
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Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing
... We report the first case of unexpected trio medical exome sequencing diagnosis of mucopolysaccharidosis type I (MPS-I) in a patient with an early CIPO. There was no clinical suspicion of MPS-I at the time of the ...
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Inference of Purifying and Positive Selection in Three Subspecies of Chimpanzees (Pan troglodytes) from Exome Sequencing
... The strength of purifying selection we infer is congruent with the differences in effective sizes of each subspecies: Central chimpanzees are undergoing the strongest purifying selection[r] ...
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