scholarly journals Specify Mutation Analysis Method

2020 ◽  
Author(s):  
Keyword(s):  
Mutation Analysis ◽  
Analysis Method

scholarly journals Design and Generation of MLPA Probe Sets for Combined Copy Number and Small-Mutation Analysis of Human Genes: EGFR as an Example

2010 ◽  
Vol 10 ◽  
pp. 2003-2018 ◽  
Author(s):  
Malgorzata Marcinkowska ◽  
Kwok-Kin Wong ◽  
David J. Kwiatkowski ◽  
Piotr Kozlowski
Keyword(s):  
Mutation Analysis ◽  
Copy Number ◽  
Analysis Method ◽  
Copy Number Analysis ◽  
Short Oligonucleotide ◽  
Human Genes ◽  
Simple Protocol ◽  
Commercial Kits ◽  
Genomic Regions ◽  
Dependent Probe

Multiplex ligation-dependent probe amplification (MLPA) is a multiplex copy number analysis method that is routinely used to identify large mutations in many clinical and research labs. One of the most important drawbacks of the standard MLPA setup is a complicated, and therefore expensive, procedure of generating long MLPA probes. This drawback substantially limits the applicability of MLPA to those genomic regions for which ready-to-use commercial kits are available. Here we present a simple protocol for designing MLPA probe sets that are composed entirely of short oligonucleotide half-probes generated through chemical synthesis. As an example, we present the design and generation of an MLPA assay for parallel copy number and small-mutation analysis of theEGFRgene.

A probabilistic analysis method for functional qualification under Mutation Analysis

2012 ◽  
Author(s):  
Hsiu-Yi Lin ◽  
Chun-Yao Wang ◽  
Shih-Chieh Chang ◽  
Yung-Chih Chen ◽  
Hsuan-Ming Chou ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Probabilistic Analysis ◽  
Analysis Method

scholarly journals A genome-wide mutation analysis method enabling high-throughput identification of chemical mutagen signatures

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Shoji Matsumura ◽  
Yurika Fujita ◽  
Masayuki Yamane ◽  
Osamu Morita ◽  
Hiroshi Honda
Keyword(s):  
Mutation Analysis ◽  
High Throughput ◽  
Chemical Mutagen ◽  
Analysis Method ◽  
Genome Wide ◽  
A Genome

Determination of haemophilia A carrier status by mutation analysis

Haemophilia ◽  
2001 ◽  
Vol 7 (1) ◽  
pp. 20-25 ◽  
Author(s):  
S. Oranwiroon ◽  
V. Akkarapatumwong ◽  
P. Pung-Amritt ◽  
A. Treesucon ◽  
G. Veerakul ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Carrier Status ◽  
Haemophilia A

homeodomain mutation analysis in patients with Müllerian system anomalies

1998 ◽  
Vol 5 (1) ◽  
pp. 140A-140A ◽  
Author(s):  
J STELLING ◽  
B BHAGAVATH ◽  
M GRAY ◽  
R REINDOLLAR
Keyword(s):  
Mutation Analysis
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