نتایج جستجو برای: clinical exome sequencing
تعداد نتایج: 1271061 فیلتر نتایج به سال:
Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder ...
PURPOSE Chromosomal gains and losses resulting in altered gene dosage are known to be recurrent in gastrointestinal stromal tumors (GIST). The aim of our study was the identification of clinical relevant genes in these candidate regions. MATERIAL AND METHODS A cohort of 174 GIST was investigated using DNA array (n = 29), FISH (n = 125), exome sequencing (n = 13), and immunohistochemistry (n =...
Next Generation Sequencing has enabled a range of applications to investigate nearly every facet of genomic science including variant detection, transcriptome profiling and epigenetic studies. Many of these applications were previously either impractical or uneconomical by Sanger sequencing. In particular, whole genome and exome sequencing are now within the reach of an increasing number of res...
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Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient di...
Whole-exome sequencing (WES) is a robust and one of the most comprehensive genetic tests to identify the disease-causing changes in a large variety of genetic disorders. In WES, protein-coding regions of all genes (~20,000) of the human genome, i.e. exome, are sequenced using next-generation sequencing technologies. While the exome constitutes only ~1% of the whole genome, 85% of all disease-ca...
In the last few years, next-generation sequencing (NGS) has revolutionized the approaches by which we interrogate the genetic causes of rare single-gene disorders (1 ). More recently, NGS has been rapidly moving into the clinical diagnostics arena and transforming the practice of molecular diagnostics testing. Many NGSbased tests for multigene panels are available in clinical laboratories. Now,...
Precision or personalized medicine through clinical genome and exome sequencing has been described by some as a revolution that could transform healthcare delivery, yet it is currently used in only a small fraction of patients, principally for the diagnosis of suspected Mendelian conditions and for targeting cancer treatments. Given the burden of illness in our society, it is of interest to ask...
To date, genome-wide association studies have yielded discoveries of common variants that partly explain familial aggregation of diseases and traits. Researchers are now turning their attention to less common variants because the price of sequencing has dropped drastically. However, because sequencing of the whole genome in large samples is costly, great care must be taken to prioritize which s...
This paper summarizes the current controversies surrounding the identification and disclosure of "incidental" or "secondary" findings from genomic sequencing and the implications for genetic counseling practice. The rapid expansion of clinical sequencing has influenced the ascertainment and return of incidental findings, while empiric data to inform best practices are still being generated. Usi...
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