Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population

2020 ◽  
Author(s):  
Michael A Levy ◽  
Jennifer Kerkhof ◽  
Frances R. Belmonte ◽  
Brett A. Kaufman ◽  
Pratibha Bhai ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Copy Number ◽  
Clinical Performance ◽  
Copy Number Variant ◽  
Next Generation ◽  
Canadian Population ◽  
Variant Analysis ◽  
Generation Sequencing

Review of 12 months of copy number variant calling on a clinical next generation sequencing pipeline

Pathology ◽  
2020 ◽  
Vol 52 ◽  
pp. S108
Author(s):  
Dylan A. Mordaunt ◽  
Julien Soubrier ◽  
Song Gao ◽  
Lesley Rawlings ◽  
Jillian Nicholl ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Copy Number ◽  
Variant Calling ◽  
Copy Number Variant ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data

2020 ◽  
Vol 41 (12) ◽  
pp. 2073-2077
Author(s):  
Daniel Lopez‐Lopez ◽  
Carlos Loucera ◽  
Rosario Carmona ◽  
Virginia Aquino ◽  
Josefa Salgado ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Copy Number ◽  
Next Generation Sequencing Data ◽  
Sequence Variant ◽  
Next Generation ◽  
Sequencing Data ◽  
Variant Analysis ◽  
Generation Sequencing

scholarly journals Copy number variant detection by anchored multiplex PCR and next-generation sequencing

2016 ◽  
Vol 27 ◽  
pp. vi402
Author(s):  
J.D. Haimes ◽  
J. Covino ◽  
N. Manoj ◽  
E. Baravik ◽  
L. Johnson ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Multiplex Pcr ◽  
Copy Number ◽  
Copy Number Variant ◽  
Next Generation ◽  
Variant Detection ◽  
Generation Sequencing ◽  
Copy Number Variant Detection
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