scholarly journals Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

Cell Reports ◽  
2014 ◽  
Vol 8 (5) ◽  
pp. 1280-1289 ◽  
Author(s):  
Xuyu Cai ◽  
Gilad D. Evrony ◽  
Hillel S. Lehmann ◽  
Princess C. Elhosary ◽  
Bhaven K. Mehta ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Human Brain ◽  
Single Cell ◽  
Copy Number ◽  
Genome Wide ◽  
Number Variation ◽  
Cell Genome ◽  
Single Cell Genome

scholarly journals Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

Cell Reports ◽  
2015 ◽  
Vol 10 (4) ◽  
pp. 645 ◽  
Author(s):  
Xuyu Cai ◽  
Gilad D. Evrony ◽  
Hillel S. Lehmann ◽  
Princess C. Elhosary ◽  
Bhaven K. Mehta ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Human Brain ◽  
Single Cell ◽  
Copy Number ◽  
Genome Wide ◽  
Number Variation ◽  
Cell Genome ◽  
Single Cell Genome

scholarly journals Genome-Wide Copy Number Variation Scan Identifies Complement Component C4 as Novel Susceptibility Gene for Crohnʼs Disease

2016 ◽  
Vol 22 (3) ◽  
pp. 505-515 ◽  
Author(s):  
Isabelle Cleynen ◽  
Peter Konings ◽  
Caroline Robberecht ◽  
Debby Laukens ◽  
Leila Amininejad ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Susceptibility Gene ◽  
Complement Component ◽  
Genome Wide ◽  
Number Variation

scholarly journals Evaluation of affinity-based genome-wide DNA methylation data: Effects of CpG density, amplification bias, and copy number variation

2010 ◽  
Vol 20 (12) ◽  
pp. 1719-1729 ◽  
Author(s):  
M. D. Robinson ◽  
C. Stirzaker ◽  
A. L. Statham ◽  
M. W. Coolen ◽  
J. Z. Song ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Copy Number Variation ◽  
Copy Number ◽  
Methylation Data ◽  
Amplification Bias ◽  
Genome Wide ◽  
Number Variation

scholarly journals Genome-Wide Detection of Allele Specific Copy Number Variation Associated with Insulin Resistance in African Americans from the HyperGEN Study

PLoS ONE ◽  
2011 ◽  
Vol 6 (8) ◽  
pp. e24052 ◽  
Author(s):  
Marguerite R. Irvin ◽  
Nathan E. Wineinger ◽  
Treva K. Rice ◽  
Nicholas M. Pajewski ◽  
Edmond K. Kabagambe ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
African Americans ◽  
Copy Number Variation ◽  
Copy Number ◽  
Genome Wide ◽  
Number Variation ◽  
Allele Specific

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

2008 ◽  
Vol 7 (4) ◽  
pp. 319-326 ◽  
Author(s):  
Hylke M Blauw ◽  
Jan H Veldink ◽  
Michael A van Es ◽  
Paul W van Vught ◽  
Christiaan GJ Saris ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Genome Wide ◽  
A Genome ◽  
Number Variation ◽  
Lateral Sclerosis

EPCO-28. SINGLE-CELL RNA SEQUENCING IDENTIFIES INTRATUMORAL HETEROGENEITY AND ACTIVATION OF PRO-INVASIVE PATHWAYS IN NON-FUNCTIONING PITUITARY ADENOMAS

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi8-vi8
Author(s):  
Saket Jain ◽  
Elaina Wang ◽  
Husam Babikir ◽  
Karin Shamardani ◽  
Aaron Diaz ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Wnt Signaling ◽  
Single Cell ◽  
Rna Sequencing ◽  
Pituitary Adenomas ◽  
Copy Number ◽  
Variation Analysis ◽  
Copy Number Variation Analysis ◽  
Single Cell Rna Sequencing ◽  
Number Variation

Abstract Pituitary adenomas (PA) are one of the most common primary brain tumors and comprise 15% of brain neoplasms. Most PAs are histologically benign but can cause significant morbidity. The genetic profile of PAs is poorly understood. We used single-cell RNA sequencing using the 10X genomic platform to investigate cellular heterogeneity in twelve non-functioning pituitary adenoma samples from nine patients including site-specific (core vs edge) samples from three patients. Our analysis identified discrete clusters of cells associated with activation of specific functional pathways including lipid metabolism, angiogenic, and antigen presentation and processing pathways regardless of location within the tumor. MALT1, a lncRNA associated with increased proliferation and metastasis was ubiquitously expressed amongst these samples. Analysis of the core vs edge samples showed two specific clusters with activated invasion-promoting pathways including PI3k/AKT signaling, Wnt signaling (Wnt6 and FZD4), and epithelial-mesenchymal transition (TGFB1, SMAD1, ZEB1, and SNAI2) in the edge of the tumors. The activated Wnt signaling cascade drove a proinflammatory tumor microenvironment induced by the expression of IL-1, IL-17, and Toll-like receptors (TLR6 and TLR7/8) resulting in suppression of Tregs. Copy number variation analysis using the CONICS-CNV algorithm highlighted distinct chromosomal alterations within our samples that led to insight into clonal variations within each tumor with loss of chromosome 2 an early event in tumorigenesis and gain/loss of chromosome 19 as late events. Mapping the copy number variation analysis with the somatic variant analysis using the Vartrix algorithm identified novel driver mutations within these tumors. These findings help define the molecular fingerprint of pituitary adenomas and provide insights which could be utilized for better management of these tumors.

scholarly journals A genome-wide analysis of copy number variation in Murciano-Granadina goats

2020 ◽  
Vol 52 (1) ◽  
Author(s):  
Dailu Guan ◽  
Amparo Martínez ◽  
Anna Castelló ◽  
Vincenzo Landi ◽  
María Gracia Luigi-Sierra ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Genome Wide Analysis ◽  
Genome Wide ◽  
A Genome ◽  
Number Variation
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