Targeted sequencing is a technique that uses NGS to target specific genes, coding regions of the genome, or chromosomal segments for rapid identification and analysis of genetic mutations.
Targeted next- generation sequencing assay for detection of mutations in primary myopathies. Neuromuscular Disorders: NMD. 2015.Evila A, Arumilli M, Udd B, Hackman P. Targeted next-generation sequencing assay for detection of mutations in primary myopathies. Neuromuscul Disord 2016; 26: 7-15...
The Ion Torrent immunology research portfolio enables a multi-dimensional research approach to repertoire sequencing and immune response. Each targeted next-generation sequencing (NGS) assay is powered by the accuracy and sensitivity of Ion Torrent technology to help discover more from wit...
targeted next generation sequencing as a reliable diagnostic assay for the detection of somatic mutations in tumours usi.针对下一代测序作为一个可靠的诊断试验的体细胞突变的检测肿瘤使.pdf 2016-12-29上传 targeted next generation sequencing as a reliable diagnostic assay for the detection of somatic muta...
19 Hall N: Advanced sequencing technologies and their wider impact in microbiology. J Exp Biol 2007; 210: 1518–1525. 20 Xie S, Lan Z, Qu N et al: Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing. Gene 2012; 499: 139–...
With the development of next generation sequencing, more and more common inherited diseases have been reported. However, accurate and convenient molecular diagnosis cannot be achieved easily because of the enormous size of disease causing mutations. In t
The aim of this study was to develop a new, comprehensive and efficient single assay strategy for complete molecular diagnosis ofNOTCH3mutations through the use of a custom next-generation sequencing (NGS) panel for improved routine clinical molecular diagnostic testing. Our custom NGS panel ...
Next-generation sequencing has become a powerful tool for testing genetically and clinically heterogeneous conditions such as mitochondrial disorders. A recent study published in Science Translational Medicine underscores the considerable clinical benefi
We developed and clinically validated a hybrid capture next generation sequencing assay to detect somatic alterations and microsatellite instability in solid tumors and hematologic malignancies. This targeted oncology assay utilizes tumor-normal matched samples for highly accurate somatic alteration calling and...
DNA samples were purified with the "QIAqick PCR Purification Kit" following the manufacturer's instructions. The concentration of the genomic DNA was determined with the "Qubit dsDNA BR Assay Kit" in the Qubit 2.0 fluorometer. Targeted next generation sequencing design A custom HaloPlex panel was...