Results 111 to 120 of about 1,224,700 (304)

A comprehensive survey of copy number variation in 18 diverse pig populations and identification of candidate copy number variable genes associated with complex traits

open access: yesBMC Genomics, 2012
Background Copy number variation (CNV) is a major source of structural variants and has been commonly identified in mammalian genome. It is associated with gene expression and may present a major genetic component of phenotypic diversity.
Chen Congying   +7 more
doaj   +1 more source

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

open access: yesGenome Medicine, 2020
Background Exome sequencing (ES) is a first-tier diagnostic test for many suspected Mendelian disorders. While it is routine to detect small sequence variants, it is not a standard practice in clinical settings to detect germline copy-number variants ...
Ramakrishnan Rajagopalan   +3 more
doaj   +1 more source

Estimation of tumor heterogeneity using CGH array data [PDF]

open access: yes, 2009
Background Array-based comparative genomic hybridization (CGH) is a commonly-used approach to detect DNA copy number variation in whole genome-wide screens.
Li Shengting   +4 more
core   +2 more sources

Colorectal cancer‐derived FGF19 is a metabolically active serum biomarker that exerts enteroendocrine effects on mouse liver

open access: yesMolecular Oncology, Volume 20, Issue 6, Page 1494-1512, June 2026.
Meta‐transcriptome analysis identified FGF19 as a peptide enteroendocrine hormone associated with colorectal cancer prognosis. In vivo xenograft models showed release of FGF19 into the blood at levels that correlated with tumor volumes. Tumoral‐FGF19 altered murine liver metabolism through FGFR4, thereby reducing bile acid synthesis and increasing ...
Jordan M. Beardsley   +5 more
wiley   +1 more source

Pervasive gene content variation and copy number variation in maize and its undomesticated progenitor [PDF]

open access: yes, 2010
Individuals of the same species are generally thought to have very similar genomes. However, there is growing evidence that structural variation in the form of copy number variation (CNV) and presence-absence variation (PAV) can lead to variation in the ...
Swanson-Wagner, R. A.   +6 more
core   +1 more source

Subtype‐specific enhancer RNAs define transcriptional regulators and prognosis in breast cancers

open access: yesMolecular Oncology, EarlyView.
This study employed machine learning methodologies to perform the subtype‐specific classification of RNA‐seq data sets, which are mapped on enhancers from TCGA‐derived breast cancer patients. Their integration with gene expression (referred to as ProxCReAM eRNAs) and chromatin accessibility profiles has the potential to identify lineage‐specific and ...
Aamena Y. Patel   +6 more
wiley   +1 more source

Comprehensively benchmarking applications for detecting copy number variation.

open access: yesPLoS Computational Biology, 2019
MOTIVATION:Recently, copy number variation (CNV) has gained considerable interest as a type of genomic variation that plays an important role in complex phenotypes and disease susceptibility.
Le Zhang   +3 more
doaj   +1 more source

Diversity in coding tandem repeats in related spp. [PDF]

open access: yes, 2003
This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL - © 2003 Jordan et al; licensee BioMed Central Ltd ...
Jordan, P, Saunders, NJ, Snyder, LAS
core   +4 more sources

Dimethyl fumarate combined with cisplatin at subcytotoxic doses sensitizes cervical cancer toward ferroptosis and apoptosis through GSH restriction and p53 (re)activation

open access: yesMolecular Oncology, EarlyView.
Dimethyl fumarate (DMF) reduces growth of HPV‐positive cervical cancer spheroids and induces ferroptosis in cervical cancer cells via blocking SLC7A11/Glutathione (GSH) axis. Combination of subcytotoxic doses of DMF and cisplatin (CDDP) further suppresses spheroid growth and drives cell death in 2D culture models.
Carolina Punziano   +6 more
wiley   +1 more source

Integrated analyses of copy number variations and gene differential expression in lung squamous-cell carcinoma

open access: yesBiological Research, 2015
BACKGROUND: Although numerous efforts have been made, the pathogenesis underlying lung squamous-cell carcinoma (SCC) remains unclear. This study aimed to identify the CNV-driven genes by an integrated analysis of both the gene differential expression and
Zhao Yang   +4 more
doaj   +1 more source

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