scholarly journals 782 Detection of mosaic copy-number variation from whole-exome sequencing in mosaic cutaneous disorders using XHMM and custom SNP approach

2018 ◽  
Vol 138 (5) ◽  
pp. S133
Author(s):  
A. Sorlin ◽  
Tisserant ◽  
J. Thevenon ◽  
V. Carmignac ◽  
Y. Duffourd ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Copy Number ◽  
Whole Exome ◽  
Number Variation

The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders

2019 ◽  
Vol 96 (2) ◽  
pp. 140-150 ◽  
Author(s):  
Qingguo Jiao ◽  
Haiming Sun ◽  
Haoya Zhang ◽  
Ran Wang ◽  
Suting Li ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Neurological Disorders ◽  
Copy Number ◽  
Whole Exome ◽  
Number Variation

An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

2014 ◽  
Vol 35 (7) ◽  
pp. 899-907 ◽  
Author(s):  
Renjie Tan ◽  
Yadong Wang ◽  
Sarah E. Kleinstein ◽  
Yongzhuang Liu ◽  
Xiaolin Zhu ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Copy Number ◽  
Sequencing Data ◽  
Exome Sequencing Data ◽  
Whole Exome ◽  
Whole Exome Sequencing Data ◽  
Number Variation ◽  
Copy Number Variation Detection

scholarly journals Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

2012 ◽  
Vol 91 (4) ◽  
pp. 597-607 ◽  
Author(s):  
Menachem Fromer ◽  
Jennifer L. Moran ◽  
Kimberly Chambert ◽  
Eric Banks ◽  
Sarah E. Bergen ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Copy Number ◽  
Sequencing Depth ◽  
Whole Exome ◽  
Number Variation
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