copy number variant detection
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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 Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi‐Ethnic Allele and Copy Number Variant Detection

2020 ◽  
Author(s):  
Stuart A. Scott ◽  
Erick R. Scott ◽  
Yoshinori Seki ◽  
Annette J. Chen ◽  
Richard Wallsten ◽  
...  
Keyword(s):  
Copy Number ◽  
Copy Number Variant ◽  
Analytical Validation ◽  
Variant Detection ◽  
Genotyping Panel ◽  
Copy Number Variant Detection

ERDS-Exome: A Hybrid Approach for Copy Number Variant Detection from Whole-Exome Sequencing Data

2020 ◽  
Vol 17 (3) ◽  
pp. 796-803 ◽  
Author(s):  
Renjie Tan ◽  
Jixuan Wang ◽  
Xiaoliang Wu ◽  
Liran Juan ◽  
Tianjiao Zhang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Copy Number ◽  
Hybrid Approach ◽  
Copy Number Variant ◽  
Sequencing Data ◽  
Exome Sequencing Data ◽  
Whole Exome ◽  
Whole Exome Sequencing Data ◽  
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

Free-access copy-number variant detection tools for targeted next-generation sequencing data

2019 ◽  
Vol 779 ◽  
pp. 114-125 ◽  
Author(s):  
Iria Roca ◽  
Lorena González-Castro ◽  
Helena Fernández ◽  
Mª Luz Couce ◽  
Ana Fernández-Marmiesse
Keyword(s):  
Next Generation Sequencing ◽  
Copy Number ◽  
Copy Number Variant ◽  
Next Generation Sequencing Data ◽  
Free Access ◽  
Sequencing Data ◽  
Targeted Next Generation Sequencing ◽  
Variant Detection ◽  
Generation Sequencing ◽  
Copy Number Variant Detection

scholarly journals Single-cell copy number variant detection reveals the dynamics and diversity of adaptation

PLoS Biology ◽  
2018 ◽  
Vol 16 (12) ◽  
pp. e3000069 ◽  
Author(s):  
Stephanie Lauer ◽  
Grace Avecilla ◽  
Pieter Spealman ◽  
Gunjan Sethia ◽  
Nathan Brandt ◽  
...  
Keyword(s):  
Single Cell ◽  
Copy Number ◽  
Copy Number Variant ◽  
Variant Detection ◽  
Copy Number Variant Detection

scholarly journals Evaluation of copy number variant detection from panel-based next-generation sequencing data

2018 ◽  
Vol 7 (1) ◽  
pp. e00513 ◽  
Author(s):  
Ruen Yao ◽  
Tingting Yu ◽  
Yanrong Qing ◽  
Jian Wang ◽  
Yiping Shen
Keyword(s):  
Next Generation Sequencing ◽  
Copy Number ◽  
Copy Number Variant ◽  
Next Generation Sequencing Data ◽  
Next Generation ◽  
Sequencing Data ◽  
Variant Detection ◽  
Generation Sequencing ◽  
Copy Number Variant Detection

scholarly journals Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

2017 ◽  
Vol 19 (6) ◽  
pp. 905-920 ◽  
Author(s):  
Jennifer Kerkhof ◽  
Laila C. Schenkel ◽  
Jack Reilly ◽  
Sheri McRobbie ◽  
Erfan Aref-Eshghi ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Copy Number ◽  
Copy Number Variant ◽  
Clinical Validation ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Variant Detection ◽  
Generation Sequencing ◽  
Copy Number Variant Detection
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