Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia

Copy Number ◽

Copy Number Variations ◽

Next Generation ◽

Heterozygous Familial Hypercholesterolemia ◽

Generation Sequencing ◽

Dependent Probe

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):

Copy Number ◽

Copy Number Variations ◽

Next Generation ◽

Ldlr Gene ◽

A multiplex ligation‑dependent probe amplification‑based next‑generation sequencing approach for the detection of copy number variations in the human genome

Molecular Medicine Reports ◽

10.3892/mmr.2018.9581 ◽

2018 ◽

Author(s):

Yongchen Yang ◽

Chaoran Xia ◽

Zaiwei Zhou ◽

Dongkai Wei ◽

Kangping Xu ◽

...

Keyword(s):

Human Genome ◽

Copy Number ◽

Copy Number Variations ◽

Next Generation ◽

Generation Sequencing ◽

Dependent Probe

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):

Molecular Diagnosis ◽

Copy Number ◽

Copy Number Variations ◽

Next Generation ◽

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):

Copy Number Variation ◽

Copy Number ◽

Next Generation ◽

Number Variation ◽

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):

Copy Number ◽

Kidney Diseases ◽

Copy Number Variations ◽

Next Generation Sequencing Data ◽

Next Generation ◽

Sequencing Data ◽

Pair Analysis ◽

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):

Myelodysplastic Syndromes ◽

Copy Number ◽

Copy Number Variations ◽

Next Generation ◽

Generation Sequencing ◽

High Depth

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):

Copy Number ◽

Kernel Density ◽

Copy Number Variations ◽

Next Generation Sequencing Data ◽

Next Generation ◽

Sequencing Data ◽

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):

Copy Number ◽

Copy Number Variations ◽

Next Generation ◽

Breast Carcinomas ◽

Invasive Breast Carcinomas ◽

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):

Copy Number ◽

Genetic Resistance ◽

Copy Number Variations ◽

Marek's Disease ◽

Host Genome ◽

Next Generation ◽

Genome Wide ◽

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):

False Discovery Rate ◽

Copy Number ◽

Copy Number Variations ◽

Next Generation Sequencing Data ◽

Next Generation ◽

Sequencing Data ◽

False Discovery ◽