Use of next-generation sequencing to detect copy number variations in the molecular diagnosis of familial hypercholesterolemia

2017 ◽  
Vol 263 ◽  
pp. e236
Author(s):  
Michael Iacocca ◽  
Jian Wang ◽  
Jacqueline Dron ◽  
John Robinson ◽  
Adam Mcintyre ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Familial Hypercholesterolemia ◽  
Molecular Diagnosis ◽  
Copy Number ◽  
Copy Number Variations ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Use of next-generation sequencing to detectLDLRgene copy number variation in familial hypercholesterolemia

2017 ◽  
Vol 58 (11) ◽  
pp. 2202-2209 ◽  
Author(s):  
Michael A. Iacocca ◽  
Jian Wang ◽  
Jacqueline S. Dron ◽  
John F. Robinson ◽  
Adam D. McIntyre ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Copy Number Variation ◽  
Familial Hypercholesterolemia ◽  
Copy Number ◽  
Next Generation ◽  
Number Variation ◽  
Generation Sequencing

scholarly journals Next-generation sequencing identifies recurrent copy number variations in invasive breast carcinomas from Ghana

2020 ◽  
Vol 33 (8) ◽  
pp. 1537-1545 ◽  
Author(s):  
Talha Anwar ◽  
Miguel L. Rufail ◽  
Sabra I. Djomehri ◽  
Maria E. Gonzalez ◽  
Lorena Lazo de la Vega ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Copy Number ◽  
Copy Number Variations ◽  
Next Generation ◽  
Breast Carcinomas ◽  
Invasive Breast Carcinomas ◽  
Generation Sequencing

scholarly journals cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate

2012 ◽  
Vol 40 (9) ◽  
pp. e69-e69 ◽  
Author(s):  
Günter Klambauer ◽  
Karin Schwarzbauer ◽  
Andreas Mayr ◽  
Djork-Arné Clevert ◽  
Andreas Mitterecker ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
False Discovery Rate ◽  
Copy Number ◽  
Copy Number Variations ◽  
Next Generation Sequencing Data ◽  
Next Generation ◽  
Sequencing Data ◽  
False Discovery ◽  
Generation Sequencing
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