Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test

2019 ◽  
Vol 45 (9) ◽  
pp. 1925-1928 ◽  
Author(s):  
Seung‐Chul Kim ◽  
Dong‐Hyun Cha ◽  
Hae‐Ryun Jeong ◽  
Junnam Lee ◽  
Ja‐Hyun Jang ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Prenatal Test ◽  
Number Variation ◽  
Chromosomal Copy Number ◽  
Chromosomal Copy ◽  
Clinically Significant ◽  
Chromosomal Copy Number Variation

scholarly journals Chromosomal Copy Number Variation, Selection and Uneven Rates of Recombination Reveal Cryptic Genome Diversity Linked to Pathogenicity

PLoS Genetics ◽  
2013 ◽  
Vol 9 (8) ◽  
pp. e1003703 ◽  
Author(s):  
Rhys A. Farrer ◽  
Daniel A. Henk ◽  
Trenton W. J. Garner ◽  
Francois Balloux ◽  
Douglas C. Woodhams ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Genome Diversity ◽  
Number Variation ◽  
Chromosomal Copy Number ◽  
Chromosomal Copy ◽  
Chromosomal Copy Number Variation

scholarly journals Chromosomal copy number variation reveals differential levels of genomic plasticity in distinct Trypanosoma cruzi strains

BMC Genomics ◽  
2015 ◽  
Vol 16 (1) ◽  
Author(s):  
João Luís Reis-Cunha ◽  
Gabriela F. Rodrigues-Luiz ◽  
Hugo O. Valdivia ◽  
Rodrigo P. Baptista ◽  
Tiago A. O. Mendes ◽  
...  
Keyword(s):  
Trypanosoma Cruzi ◽  
Copy Number Variation ◽  
Copy Number ◽  
Genomic Plasticity ◽  
Number Variation ◽  
Chromosomal Copy Number ◽  
Chromosomal Copy ◽  
Chromosomal Copy Number Variation

scholarly journals Industrial Relevance of Chromosomal Copy Number Variation in Saccharomyces Yeasts

2017 ◽  
Vol 83 (11) ◽  
Author(s):  
Arthur R. Gorter de Vries ◽  
Jack T. Pronk ◽  
Jean-Marc G. Daran
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Evolutionary Significance ◽  
Evolutionary Engineering ◽  
Content Type ◽  
Recent Developments ◽  
Number Variation ◽  
Chromosomal Copy Number ◽  
Chromosomal Copy ◽  
Chromosomal Copy Number Variation

ABSTRACT Chromosomal copy number variation (CCNV) plays a key role in evolution and health of eukaryotes. The unicellular yeast Saccharomyces cerevisiae is an important model for studying the generation, physiological impact, and evolutionary significance of CCNV. Fundamental studies of this yeast have contributed to an extensive set of methods for analyzing and introducing CCNV. Moreover, these studies provided insight into the balance between negative and positive impacts of CCNV in evolutionary contexts. A growing body of evidence indicates that CCNV not only frequently occurs in industrial strains of Saccharomyces yeasts but also is a key contributor to the diversity of industrially relevant traits. This notion is further supported by the frequent involvement of CCNV in industrially relevant traits acquired during evolutionary engineering. This review describes recent developments in genome sequencing and genome editing techniques and discusses how these offer opportunities to unravel contributions of CCNV in industrial Saccharomyces strains as well as to rationally engineer yeast chromosomal copy numbers and karyotypes.

scholarly journals Integrated analysis revealing genome‑wide chromosomal copy number variation in supraglottic laryngeal squamous cell carcinoma

2020 ◽  
Vol 20 (2) ◽  
pp. 1201-1212
Author(s):  
Dongjie Li ◽  
Xianfu Wang ◽  
Shunfei Lu ◽  
Ping Wang ◽  
Xin Wang ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Copy Number Variation ◽  
Cell Carcinoma ◽  
Copy Number ◽  
Laryngeal Squamous Cell Carcinoma ◽  
Integrated Analysis ◽  
Genome Wide ◽  
Number Variation ◽  
Chromosomal Copy Number ◽  
Chromosomal Copy Number Variation

scholarly journals A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays

2010 ◽  
Vol 55 (9) ◽  
pp. 627-630 ◽  
Author(s):  
Ahmet Yilmaz ◽  
Nancy Hamel ◽  
Charles E Schwartz ◽  
Richard S Houlston ◽  
John I Harper ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Proteus Syndrome ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
A Genome ◽  
Snp Microarrays ◽  
Number Variation ◽  
Chromosomal Copy Number ◽  
Chromosomal Copy Number Variation

scholarly journals Pilot study of a novel multi‐functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single‐gene disorder screening

2019 ◽  
Vol 7 (4) ◽  
pp. e00597 ◽  
Author(s):  
Yuqin Luo ◽  
Bei Jia ◽  
Kai Yan ◽  
Siping Liu ◽  
Xiaojie Song ◽  
...  
Keyword(s):  
Pilot Study ◽  
Copy Number Variation ◽  
Copy Number ◽  
Single Gene ◽  
Single Gene Disorder ◽  
Prenatal Test ◽  
Number Variation

scholarly journals Chromosomal copy number variation analysis by next generation sequencing confirms ploidy stability in Trypanosoma brucei subspecies

2018 ◽  
Vol 4 (10) ◽  
Author(s):  
Laila Viana Almeida ◽  
Anderson Coqueiro-dos-Santos ◽  
Gabriela F. Rodriguez-Luiz ◽  
Richard McCulloch ◽  
Daniella Castanheira Bartholomeu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Trypanosoma Brucei ◽  
Copy Number ◽  
Variation Analysis ◽  
Ploidy Stability ◽  
Copy Number Variation Analysis ◽  
Number Variation ◽  
Chromosomal Copy Number ◽  
Chromosomal Copy Number Variation ◽  
Generation Sequencing

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
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