scholarly journals Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

2020 ◽  
Vol 8 (11) ◽  
Author(s):  
Edmund S. Cauley ◽  
Alan Pittman ◽  
Swati Mummidivarpu ◽  
Ehsan G. Karimiani ◽  
Samantha Martinez ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Exome Sequencing ◽  
Copy Number ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy ◽  
Copy Number Variant ◽  
Variant Detection ◽  
Copy Number Variant Detection ◽  
Mutation Identification

scholarly journals Assessment of circulating copy number variant detection for cancer screening

PLoS ONE ◽  
2017 ◽  
Vol 12 (7) ◽  
pp. e0180647 ◽  
Author(s):  
Bhuvan Molparia ◽  
Eshaan Nichani ◽  
Ali Torkamani
Keyword(s):  
Cancer Screening ◽  
Copy Number ◽  
Copy Number Variant ◽  
Variant Detection ◽  
Copy Number Variant Detection

An online copy number variant detection method for short sequencing reads

2015 ◽  
Vol 42 (7) ◽  
pp. 1556-1571 ◽  
Author(s):  
Ayten Yiğiter ◽  
Jie Chen ◽  
Lingling An ◽  
Nazan Danacioğlu
Keyword(s):  
Copy Number ◽  
Detection Method ◽  
Copy Number Variant ◽  
Variant Detection ◽  
Copy Number Variant Detection

scholarly journals The Effect of Algorithms on Copy Number Variant Detection

PLoS ONE ◽  
2010 ◽  
Vol 5 (12) ◽  
pp. e14456 ◽  
Author(s):  
Debby W. Tsuang ◽  
Steven P. Millard ◽  
Benjamin Ely ◽  
Peter Chi ◽  
Kenneth Wang ◽  
...  
Keyword(s):  
Copy Number ◽  
Copy Number Variant ◽  
Variant Detection ◽  
Copy Number Variant Detection

scholarly journals Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model

2020 ◽  
Vol 22 (1) ◽  
pp. 40-49 ◽  
Author(s):  
Salla Välipakka ◽  
Marco Savarese ◽  
Lydia Sagath ◽  
Meharji Arumilli ◽  
Teresa Giugliano ◽  
...  
Keyword(s):  
Predictive Model ◽  
Copy Number ◽  
Copy Number Variant ◽  
Sequencing Data ◽  
Variant Detection ◽  
Copy Number Variant Detection

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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