نتایج جستجو برای: سرریز منحنی پیوند wes
تعداد نتایج: 27344 فیلتر نتایج به سال:
BACKGROUND The rapid expansion of genetic testing has led to increased utilization of clinical whole-exome sequencing (WES). Clinicians and genetic researchers are being faced with assessing risk of disease vulnerability from incidentally identified genetic variants which is typified by variants found in genes associated with sudden death-predisposing catecholaminergic polymorphic ventricular t...
برای عبور آب های اضافی از بالادست به پایین دست در سدها از سازه ای به نام سرریز استفاده می شود. این سرریزها دارای تاج غیر خطی بوده و دبی عبوری از این سرریزها بیشتر از سرریز مستقیم خواهد بود. در این پژوهش با استفاده از مدل عددی به بررسی هیدرولیک جریان در سریز با پلان مثلثی، ذوزنقه و منحنی شکل پرداخته شده است. نتایج نشان دهنده تطابق مناسب بین داده های عددی و آزمایشگاهی و وجود ضریب همبستگی 0/98 می ...
سرریز جانبی سازهای است که در بدنه جانبی کانال قرار می‌گیرد و برای تخلیه جریان اضافی و انحراف جریان، تنظیم سطح آب در رودخانه‌ها و شبکه‌های آبیاری و زهکشی مورد استفاده قرار می‌گیرد. بنابر مشکلاتی که در تعبیه سرریزهای معمول در مناطق کوهستانی وجود دارد، می‌توان از سرریزهای کلیدپیانویی به‌عنوان سرریز جانبی استفاده کرد. همچنین، کانال‌های منحنی شکل که معمولا در مناطق کوهستانی وجود دارند، مکا...
Tumor mutation load (TML) has been proposed as a biomarker of patient response to immunotherapy in several studies. TML is usually determined by tumor biopsy DNA (tDNA) whole exome sequencing (WES), therefore TML evaluation is limited by informative biopsy availability. Circulating cell free DNA (cfDNA) provided by liquid biopsy is a surrogate specimen to biopsy for molecular profiling. Neverth...
The Water in the Earth System (WES) collection is a collection of the Digital Library for Earth SystemEducation. As WES relies on its user community to generate metadataresources; identification of robust user community features, and ofpotential user community problems, is thereforeimportant. This paper describes (a) how ethnography is being used to studythe WES community; (b) how technological...
With the decrease in costs, whole-exome sequencing (WES) has become a very popular and powerful tool for the identification of genetic variants underlying human diseases. However, integrated tools to precisely detect and systematically annotate copy number variations (CNVs) from WES data are still in great demand. Here, we present an online tool, DeAnnCNV (Detection and Annotation of Copy Numbe...
Principal component analysis (PCA), homozygosity rate estimations, and linkage studies in humans are classically conducted through genome-wide single-nucleotide variant arrays (GWSA). We compared whole-exome sequencing (WES) and GWSA for this purpose. We analyzed 110 subjects originating from different regions of the world, including North Africa and the Middle East, which are poorly covered by...
For next-generation sequencing technologies, sufficient base-pair coverage is the foremost requirement for the reliable detection of genomic variants. We investigated whether whole-genome sequencing (WGS) platforms offer improved coverage of coding regions compared with whole-exome sequencing (WES) platforms, and compared single-base coverage for a large set of exome and genome samples. We find...
An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole-exome sequencing (WES), are identifying the genetic basis of disease for 25-40% of patients. The diagnostic rate is probably influenced by when in the diagnostic process WES is used. The Finding Of Rare Disease GEnes (FORGE) Canada project was...
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