scholarly journals High Sensitivity Detection and Quantitation of DNA Copy Number and Single Nucleotide Variants with Single Color Droplet Digital PCR

2014 ◽  
Vol 86 (5) ◽  
pp. 2618-2624 ◽  
Author(s):  
Laura Miotke ◽  
Billy T. Lau ◽  
Rowza T. Rumma ◽  
Hanlee P. Ji
Keyword(s):  
Copy Number ◽  
High Sensitivity ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Single Nucleotide Variants ◽  
Dna Copy Number ◽  
Single Nucleotide ◽  
High Sensitivity Detection ◽  
Sensitivity Detection

scholarly journals High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

2011 ◽  
Vol 83 (22) ◽  
pp. 8604-8610 ◽  
Author(s):  
Benjamin J. Hindson ◽  
Kevin D. Ness ◽  
Donald A. Masquelier ◽  
Phillip Belgrader ◽  
Nicholas J. Heredia ◽  
...  
Keyword(s):  
High Throughput ◽  
Copy Number ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Dna Copy Number ◽  
Absolute Quantitation

scholarly journals Quantitative mitochondrial DNA copy number determination using droplet digital PCR with single-cell resolution

2019 ◽  
Vol 29 (11) ◽  
pp. 1878-1888 ◽  
Author(s):  
Ryan O'Hara ◽  
Enzo Tedone ◽  
Andrew Ludlow ◽  
Ejun Huang ◽  
Beatrice Arosio ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Single Cell ◽  
Copy Number ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Dna Copy Number ◽  
Copy Number Determination ◽  
Mitochondrial Dna Copy Number

scholarly journals Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans

2021 ◽  
Vol 11 (1) ◽  
pp. 33
Author(s):  
Nayoung Han ◽  
Jung Mi Oh ◽  
In-Wha Kim
Keyword(s):  
Copy Number ◽  
Genome Wide Association Study ◽  
Copy Number Gain ◽  
Copy Number Variations ◽  
Gene Gain ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Haplotype Blocks ◽  
Genome Wide ◽  
Control And Prevention

For predicting phenotypes and executing precision medicine, combination analysis of single nucleotide variants (SNVs) genotyping with copy number variations (CNVs) is required. The aim of this study was to discover SNVs or common copy CNVs and examine the combined frequencies of SNVs and CNVs in pharmacogenes using the Korean genome and epidemiology study (KoGES), a consortium project. The genotypes (N = 72,299) and CNV data (N = 1000) were provided by the Korean National Institute of Health, Korea Centers for Disease Control and Prevention. The allele frequencies of SNVs, CNVs, and combined SNVs with CNVs were calculated and haplotype analysis was performed. CYP2D6 rs1065852 (c.100C>T, p.P34S) was the most common variant allele (48.23%). A total of 8454 haplotype blocks in 18 pharmacogenes were estimated. DMD ranked the highest in frequency for gene gain (64.52%), while TPMT ranked the highest in frequency for gene loss (51.80%). Copy number gain of CYP4F2 was observed in 22 subjects; 13 of those subjects were carriers with CYP4F2*3 gain. In the case of TPMT, approximately one-half of the participants (N = 308) had loss of the TPMT*1*1 diplotype. The frequencies of SNVs and CNVs in pharmacogenes were determined using the Korean cohort-based genome-wide association study.

scholarly journals High-sensitivity detection of TNT

2006 ◽  
Vol 103 (52) ◽  
pp. 19630-19634 ◽  
Author(s):  
M. B. Pushkarsky ◽  
I. G. Dunayevskiy ◽  
M. Prasanna ◽  
A. G. Tsekoun ◽  
R. Go ◽  
...  
Keyword(s):  
High Sensitivity ◽  
High Sensitivity Detection ◽  
Sensitivity Detection

scholarly journals Photostable phosphorescent polymer nanospheres for high sensitivity detection

2015 ◽  
Vol 3 (25) ◽  
pp. 6565-6572 ◽  
Author(s):  
A. N. Edwards ◽  
M. Yamazaki ◽  
S. H. Krishnadasan ◽  
T. W. Phillips ◽  
L. Rowlands ◽  
...  
Keyword(s):  
High Sensitivity ◽  
Simple Method ◽  
Polymer Nanospheres ◽  
High Sensitivity Detection ◽  
Sensitivity Detection

A simple method is presented for the preparation of photostable phosphorescent polymer nanospheres.

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