Targeted next generation sequencing (NGS) focuses on specific regions of interest in the genome. With targeted NGS, researchers can target specific genes, coding regions, or even chromosomal segments at deeper coverage than alternative sequencing methods, obtaining fast, accurate, and precise genomic in...
Targeted Next-Generation Sequencing by SOLiD Sequencing 重测序研究应用 Determining the DNA sequence of specific regions in the genome remains one of the most powerful tools in many research settings, ideal for sequencing gene panels and confirmation of high-throu...
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...
46,XY disorders of sex development (46,XY DSD) are characterized by incomplete masculinization of genitalia with reduced androgenization. Accurate clinical management remains challenging, especially based solely on physical examination. Targeted next-generation sequencing (NGS) with known pathogenic genes p...
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 ...
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
Targeted next-generation sequencing (NGS) on 189 genes was performed to screen for RP causative mutations in the two families. Two biallelic mutations in EYS, p.[R164*];[C2139Y] and p.[W2640*];[F2954S], were identified in the two families, respectively. EYS p.R164* and p.F2954S ...
By next-generation sequencing, the most frequently mutated gene in SEC without neoplasia and associated dysplasia/adenocarcinoma from separate foci in the same patients was TP53. Recurrent TP53 mutations were present in 50% of SEC specimens without dysplasia/neoplasia. In addition, alterations in TP53...
Targeted next generation sequencing with hybridization capture probes provides uniform coverage and specificity for many experiment applications.
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