4.9 (280) In stock
Copy number variations (CNVs) represent a type of structural variant involving alterations in the number of copies of specific regions of DNA that can either be deleted or duplicated. CNVs contribute substantially to normal population variability, however, abnormal CNVs cause numerous genetic disorders. At present, several methods for CNV detection are applied, ranging from the conventional cytogenetic analysis, through microarray-based methods (aCGH), to next-generation sequencing (NGS). In this paper, we present GenomeScreen, an NGS-based CNV detection method for low-coverage, whole-genome sequencing. We determined the theoretical limits of its accuracy and obtained confirmation in an extensive in silico study and in real patient samples with known genotypes. In theory, at least 6 M uniquely mapped reads are required to detect a CNV with the length of 100 kilobases (kb) or more with high confidence (Z-score > 7). In practice, the in silico analysis required at least 8 M to obtain >99% accuracy (for 100 kb deviations). We compared GenomeScreen with one of the currently used aCGH methods in diagnostic laboratories, which has mean resolution of 200 kb. GenomeScreen and aCGH both detected 59 deviations, while GenomeScreen furthermore detected 134 other (usually) smaller variations. When compared to aCGH, overall performance of the proposed GenemoScreen tool is comparable or superior in terms of accuracy, turn-around time, and cost-effectiveness, thus providing reasonable benefits, particularly in a prenatal diagnosis setting.
Study Guide: Diagnostics and Screening – Epidemiology
Diagnostics, Free Full-Text, borderline personality disorder
National Reference Laboratory - STD AIDS Cooperative Central Laboratory - FREE Hepatitis C Viral Load/ PCR Link for the Molecular Diagnostics Laboratory Request Form
Quill Diagnostic Free Diagnostic and Adaptive Lesson Plan
THINKCARTHINKDIAG MINI Lifetime Free Bluetooth OBD2 Scanner Auto
Diagnostics, Free Full-Text
RBL FF, bonequinhos brancos meme
Diagnostics, Free Full-Text
🧡A New Brand Created by: OTOFIX D1, 2023 newest car diagnostic analyzer, is created by with a 🎁2-year free update to serve the young people. OE-Level
OTOFIX D1 Scanner: 2023 New Ver. OE-Level Diagnosis with 2 Years Free Update, Bi-Directional Diagnostic Scan Tool, 38+ Services, Full System
Glass Free - National Diagnostics
✅ OTOFIX --New Brand, Come From Autel, Upgrade of Autel Scanner MaxiSys MS906BT, MK906BT, MS906Pro. Gets a new updating * 40+ maintenance functions
OTOFIX D1 Max Car Diagnostic Scan Tool, Bi-Directional Full System Diagnostics ECU Coding, 40+ Services, FCA SGW 2 Year Free Update, Upgraded of
Autel BT508/BT506 can not suppor all system diagnosis, Autel MaxiBAS BT608E automotive battery load tester has the same diagnostic functions as Autel
Autel MaxiBAS BT608 Plus Screen Wiper Battery Electrical System Tester Adaptive Conductance All System Diagnostics with AutoScan VINscan Read/Clear
