Clinical significance of germline copy number variation in susceptibility of human diseases

2018 ◽  
Vol 45 (1) ◽  
pp. 3-12 ◽  
Author(s):  
Liwen Hu ◽  
Xinyue Yao ◽  
Hairong Huang ◽  
Zhong Guo ◽  
Xi Cheng ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Clinical Significance ◽  
Copy Number ◽  
Human Diseases ◽  
Number Variation

scholarly journals Novel Association Strategy with Copy Number Variation for Identifying New Risk Loci of Human Diseases

PLoS ONE ◽  
2010 ◽  
Vol 5 (8) ◽  
pp. e12185 ◽  
Author(s):  
Xianfeng Chen ◽  
Xinlei Li ◽  
Ping Wang ◽  
Yang Liu ◽  
Zhenguo Zhang ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Human Diseases ◽  
Association Strategy ◽  
Novel Association ◽  
Number Variation

Clinical Significance of De Novo and Inherited Copy-Number Variation

2013 ◽  
Vol 34 (12) ◽  
pp. 1679-1687 ◽  
Author(s):  
Anneke T. Vulto-van Silfhout ◽  
Jayne Y. Hehir-Kwa ◽  
Bregje W.M. van Bon ◽  
Janneke H.M. Schuurs-Hoeijmakers ◽  
Stephen Meader ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Clinical Significance ◽  
Copy Number ◽  
De Novo ◽  
Number Variation

An algorithm for interpreting the clinical significance of chromosomal microduplications in undifferentiated forms of intellectual disorders

2020 ◽  
pp. 25-27
Author(s):  
Е.О. Беляева ◽  
Л.П. Назаренко ◽  
И.Н. Лебедев
Keyword(s):  
Copy Number Variation ◽  
Clinical Significance ◽  
Copy Number ◽  
Chromosomal Abnormalities ◽  
Integral Component ◽  
Number Variation ◽  
Chromosomal Diseases ◽  
Practical Task

Идентификация хромосомных аномалий на субмикроскопическом уровне и установление их роли в этиологии интеллектуальных расстройств являются важной научной и практической задачей. Оценка патогенного значения менее изученного типа вариаций копийности ДНК - хромосомных микродупликаций представляет актуальный предмет для обсуждения. В исследовании предложен алгоритм интерпретации клинической значимости частичных трисомий, который является неотъемлемой составляющей в диагностике и профилактике хромосомных болезней. The identification of chromosomal abnormalities at the submicroscopic level and the establishment of their role in the etiology of intellectual disorders are an important scientific and practical task. Evaluation of the pathogenic value of the less studied type of copy number variation - chromosomal microduplication - is an actual issue. The study proposed an algorithm for interpreting the clinical significance of partial trisomies, which is an integral component in the diagnosis and prevention of chromosomal diseases.

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

The impact of paralog genes: detection of copy number variation in spinal muscle atrophy patients

BIOCELL ◽  
2018 ◽  
Vol 42 (3) ◽  
pp. 87-91 ◽  
Author(s):  
Sergio LAURITO ◽  
Juan A. CUETO ◽  
Jimena PEREZ ◽  
Mar韆 ROQU�
Keyword(s):  
Copy Number Variation ◽  
Muscle Atrophy ◽  
Copy Number ◽  
Number Variation ◽  
The Impact
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