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Detection of copy number variations (CNVS) in LDLR gene by next generation sequencing in patients with familial hypercholesterolemia
Atherosclerosis
◽
10.1016/j.atherosclerosis.2018.06.459
◽
2018
◽
Vol 275
◽
pp. e154
Author(s):
C. Scrimali
◽
R. Spina
◽
V. Ingrassia
◽
A.B. Cefalu'
◽
V. Valenti
◽
...
Keyword(s):
Next Generation Sequencing
◽
Familial Hypercholesterolemia
◽
Copy Number
◽
Copy Number Variations
◽
Next Generation
◽
Ldlr Gene
◽
Generation Sequencing
Download Full-text
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References
Use of next-generation sequencing to detect copy number variations in the molecular diagnosis of familial hypercholesterolemia
Atherosclerosis
◽
10.1016/j.atherosclerosis.2017.06.768
◽
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
Download Full-text
Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia
Chinese Medical Journal
◽
10.1097/cm9.0000000000001224
◽
2020
◽
Vol Publish Ahead of Print
◽
Author(s):
Hui Yan
◽
Jian-Hui Qiu
◽
Yi-Nan Ma
◽
Yang Xiao
◽
Jun-Bao Du
Keyword(s):
Next Generation Sequencing
◽
Familial Hypercholesterolemia
◽
Copy Number
◽
Copy Number Variations
◽
Next Generation
◽
Heterozygous Familial Hypercholesterolemia
◽
Generation Sequencing
◽
Dependent Probe
Download Full-text
Use of next-generation sequencing to detectLDLRgene copy number variation in familial hypercholesterolemia
The Journal of Lipid Research
◽
10.1194/jlr.d079301
◽
2017
◽
Vol 58
(11)
◽
pp. 2202-2209
◽
Cited By ~ 44
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
Download Full-text
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases
Clinical and Experimental Nephrology
◽
10.1007/s10157-018-1534-x
◽
2018
◽
Vol 22
(4)
◽
pp. 881-888
◽
Cited By ~ 14
Author(s):
China Nagano
◽
Kandai Nozu
◽
Naoya Morisada
◽
Masahiko Yazawa
◽
Daisuke Ichikawa
◽
...
Keyword(s):
Next Generation Sequencing
◽
Copy Number
◽
Kidney Diseases
◽
Copy Number Variations
◽
Next Generation Sequencing Data
◽
Next Generation
◽
Sequencing Data
◽
Pair Analysis
◽
Generation Sequencing
Download Full-text
146 MUTATIONAL PROFILE AND COPY NUMBER VARIATIONS IN MYELODYSPLASTIC SYNDROMES BY HIGH-DEPTH NEXT GENERATION SEQUENCING
Leukemia Research
◽
10.1016/s0145-2126(15)30147-8
◽
2015
◽
Vol 39
◽
pp. S73-S74
Author(s):
T. Cedena
◽
I. Rapado
◽
R. Ayala
◽
J. Martínez-López
Keyword(s):
Next Generation Sequencing
◽
Myelodysplastic Syndromes
◽
Copy Number
◽
Copy Number Variations
◽
Next Generation
◽
Generation Sequencing
◽
High Depth
Download Full-text
RKDOSCNV: A Local Kernel Density-Based Approach to the Detection of Copy Number Variations by Using Next-Generation Sequencing Data
Frontiers in Genetics
◽
10.3389/fgene.2020.569227
◽
2020
◽
Vol 11
◽
Author(s):
Guojun Liu
◽
Junying Zhang
◽
Xiguo Yuan
◽
Chao Wei
Keyword(s):
Next Generation Sequencing
◽
Copy Number
◽
Kernel Density
◽
Copy Number Variations
◽
Next Generation Sequencing Data
◽
Next Generation
◽
Sequencing Data
◽
Generation Sequencing
Download Full-text
Next-generation sequencing identifies recurrent copy number variations in invasive breast carcinomas from Ghana
Modern Pathology
◽
10.1038/s41379-020-0515-2
◽
2020
◽
Vol 33
(8)
◽
pp. 1537-1545
◽
Cited By ~ 1
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
Download Full-text
Genome-wide characterization of copy number variations in the host genome in genetic resistance to Marek’s disease using next generation sequencing
BMC Genetics
◽
10.1186/s12863-020-00884-w
◽
2020
◽
Vol 21
(1)
◽
Author(s):
Hao Bai
◽
Yanghua He
◽
Yi Ding
◽
Qin Chu
◽
Ling Lian
◽
...
Keyword(s):
Next Generation Sequencing
◽
Copy Number
◽
Genetic Resistance
◽
Copy Number Variations
◽
Marek's Disease
◽
Host Genome
◽
Next Generation
◽
Genome Wide
◽
Generation Sequencing
Download Full-text
cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate
Nucleic Acids Research
◽
10.1093/nar/gks003
◽
2012
◽
Vol 40
(9)
◽
pp. e69-e69
◽
Cited By ~ 239
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
Download Full-text
Copy number variations characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis
The Journal of Gene Medicine
◽
10.1002/jgm.3383
◽
2021
◽
Author(s):
Xia Zhang
◽
Qingyan Huang
◽
Zhikang Yu
◽
Heming Wu
Keyword(s):
Next Generation Sequencing
◽
Candidate Genes
◽
Copy Number
◽
Copy Number Variations
◽
Sequencing Analysis
◽
Next Generation
◽
Next Generation Sequencing Analysis
◽
Generation Sequencing
Download Full-text
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