A high multiplex assay to quantify copy number variation in the FGFR1, 2, 3 genes and chromosome 11q in a single reaction

2016 ◽  
Vol 69 ◽  
pp. S134
Author(s):  
K. Madanahally Divakar ◽  
M. Boehme ◽  
K. Korn
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Multiplex Assay ◽  
Number Variation ◽  
Single Reaction

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

The impact of paralog genes: detection of copy number variation in spinal muscle atrophy patients

BIOCELL ◽  
2018 ◽  
Vol 42 (3) ◽  
pp. 87-91 ◽  
Author(s):  
Sergio LAURITO ◽  
Juan A. CUETO ◽  
Jimena PEREZ ◽  
Mar韆 ROQU�
Keyword(s):  
Copy Number Variation ◽  
Muscle Atrophy ◽  
Copy Number ◽  
Number Variation ◽  
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Copy number variation (CNV) analysis and mutation analysis of the 6q14.1–6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients

2016 ◽  
Vol 117 (3) ◽  
pp. 383-388 ◽  
Author(s):  
Ellen Geets ◽  
Doreen Zegers ◽  
Sigri Beckers ◽  
An Verrijken ◽  
Guy Massa ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Mutation Analysis ◽  
Copy Number ◽  
Number Variation
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