Next-generation sequencing panel test results in pediatric patients with progressive familial intrahepatic cholestasis: a single-center experiencedoi:10.18621/eurj.1340536CHILD patientsCHOLESTASIS in childrenMOLECULAR geneticsRETROSPECTIVE studiesADENOSINE triphosphateObjectives: The aim of this study...
Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid transformations in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude, and continuous advances are being made. It is now...
WGS (whole genome sequencing) and WES (Whole exome sequencing) have been applied in the diagnostic of Mendelian genetic disorders or the screening of carriers6,7,8,9. However, it is still a major challenge to detect few disease causing mutations in the vast potential variants in human genome...
Background: Widespread clinical implementation of next-generation sequencing (NGS)-based cancer in vitro diagnostic tests (IVDs) highlighted the urgency to establish reference materials which could provide full control of the process from nucleic acid extraction to test report generation. The formalin...
Due to the emergence of next generation sequencing, virtually the entire coding region of an individual’s DNA can now be analysed through “whole” exome sequencing, enabling almost all known and novel disease genes to be investigated for disorders such as these. Methods Genomic DNA samples ...
- Next-generation sequencing (NGS) is a technology being used by many laboratories to test for inherited disorders and tumor mutations. This technology is new for many practicing pathologists, who may not be familiar with the uses, methodology, and limitations of NGS. - To familiarize pathologists...
accuracy and very rapid time to results. The DNA sequence reads are also much longer, allowing the generation of long-range information in a cost-effective way. In addition, because the detection is done electronically, the technology is inherently much less expensive than standard sequenc...
Original research article © American College of Medical Genetics and Genomics Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China Jing He, MS1,2, Wenhui Song, PhD3, Jinlong Yang, BS3,5,...
Although Sanger sequencing is commonly used to fill in missing content in disease-targeted test panels, the scope of ES makes this strategy impractical, expen- sive, and rarely used. Analytical specificity may also be compro- mised with less depth of coverage, requiring more Sanger testing to ...
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