… , allowing for the detection of sequence variants with so far … state of next generation sequencing
diagnostic testing for … In the first section of this review, advantages of the three different …

… , CA, USA) sequencing has great performance and advantages to accurately detect all the
causal … or almost complete genome sequencing, which has the potential of discovering new …

… 60%~80% 相比还值得 进一步研究[3,4],将来随着全基因组测序(wholegenome sequencing,WGS)或
第三代基因检测技术的 广泛应用可能会提高其遗传诊断阳性率,包括一些 隐性基因的发现. …

… analysis (CMA) or 3) whole exome sequencing (WES). The medical records … The detection
rate of CMA in NIHF is higher than … NIHF due to the ability to detect rare single-gene disorders. …

… 二代测序（metagenomic next-generation sequencing，mNGS）作为一… sequencing (mNGS)
has a wide detection range and can … This article reviews the diagnostic advantages and clinical …

… heterozygous mutations were not detected and VPA toxicity was … Next generation sequencing
Genomic DNA samples were … is relatively small, which limits the representativeness of our …

… has been revolutionized by nextgeneration sequencing (NGS), … sample numbers to detect
robust disease-specific changes. … In order to combat this limitation, our group integrated the …

… methods should be combined to increase the detection of rare chromosome abnormalites.Moreover,
we should inform the limitations of the screening testing to patientsand decided by …

… the limitations of traditional detection methods cannot be quickly and accurately diagnosed,
… Metagenomic next-generation sequencing (mNGS) is a new frontier technology emerging in …

… The detection limits of ddPCR assay were 5.28 (95%CI: 4.28-… phosphate, and next-generation
sequencing detect⁃ ed 89.46… er, no H275Y mutation was detected in samples collected on …