نتایج جستجو برای: monogenic diseases
تعداد نتایج: 852089 فیلتر نتایج به سال:
The prevailing paradigm for common disease emphasizes the role of common variants predisposing to various rampant health problems, and these genetic risk profiles interact with environmental and life style risk factors triggering the disease process and modifying its progress. However, most of what we know about the molecular background of common diseases is in fact based on what we have learne...
Gabor features encoded by local binary pattern, could achieve state-of-the-art FR results in large-scale face databases.However, the time and space complexityof Gabor transformation are too high for many practicalFR applications. We propose a new and efficient local feature extraction scheme, namely MONOGENIC BINARY CODING (MBC), for face representation and recognition. The original signal is d...
To maximize clinical benefits of genetic screening of patients with nephrotic syndrome (NS) to diagnose monogenic causes, reliably distinguishing NS-causing variants from the background of rare, noncausal variants prevalent in all genomes is vital. To determine the prevalence of monogenic NS in a North American case cohort while accounting for background prevalence of genetic variation, we sequ...
Abstract Background and Aims Despite advances in understanding the underlying causes of CKD, 20% cases remain unexplained (1). A genomic approach has potential to identify cause CKD a significant portion pediatric adult patients, with estimated diagnostic rates 5-30% (2). However, there is lack consensus scientific community on best algorithm. The DECIDE project (Diagnostic EffiCacy kIdney Dise...
Objective: Type 2 diabetes (T2D) as a complex disease is the result of genetically heterogeneous factors and environmental issues interaction. Linkage and small-scale candidate gene studies were successful in identification of genetic susceptibilities of monogenic form of diseases. However, they were largely unsuccessful while applying to the more common forms of disease. By designing Genome Wi...
OBJECTIVE Monogenic diabetes, a young-onset form of diabetes, is often misdiagnosed as type 1 diabetes, resulting in unnecessary treatment with insulin. A screening approach for monogenic diabetes is needed to accurately select suitable patients for expensive diagnostic genetic testing. We used C-peptide and islet autoantibodies, highly sensitive and specific biomarkers for discriminating type ...
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