Results 101 to 110 of about 1,695,985 (356)

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

BMC 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, Qiao Ruimin, Wei Rongxing, Guo Yuanmei, Ai Huashui, Ma Junwu, Ren Jun, Huang Lusheng   +7 more
doaj   +1 more source

A comparative study of circulating tumor cell isolation and enumeration technologies in lung cancer

Molecular Oncology, EarlyView.
Lung cancer cells were spiked into donor blood to evaluate the recovery rates of the following circulating tumor cell (CTC) enrichment technologies: CellMag™, EasySep™, RosetteSep™, Parsortix® PR1, and Parsortix® Prototype systems. Each method's advantages and disadvantages are described.
Volga M Saini, Ezgi Oner, Mark P. Ward, Sinead Hurley, Brian David Henderson, Faye Lewis, Stephen P. Finn, Gerard J. Fitzmaurice, John J. O'Leary, Sharon O'Toole, Lorraine O'Driscoll, Kathy Gately   +11 more
wiley   +1 more source

Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes [PDF]

, 2015
The human salivary amylase genes display extensive copy number variation (CNV), and recent work has implicated this variation in adaptation to starch-rich diets, and in association with body mass index.
Abecasis, B. Fu, Bank, Bentley, Brock, Carpenter, Conrad, D. Carpenter, F. Yang, Fellermann, Field, Groot, Groot, Groot, Groot, Iafrate, J. A. L. Armour, J. Tyson, L. M. Mitchell, M. G. Thomas, Michalet, N. A. A. Shwan, Perry, Pronk, Pronk, S. Dhar, Samuelson, Sjolund, Sudmant, Veal, Walker   +30 more
core   +2 more sources

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

Genome 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, Jill R. Murrell, Minjie Luo, Laura K. Conlin   +3 more
doaj   +1 more source

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

Nature Genetics, 2016
Copy number variation (CNV) affecting protein-coding genes contributes substantially to human diversity and disease. Here we characterized the rates and properties of rare genic CNVs (
D. Ruderfer, T. Hamamsy, M. Lek, K. Karczewski, D. Kavanagh, K. Samocha, M. Daly, D. MacArthur, M. Fromer, S. Purcell   +9 more
semanticscholar   +1 more source

KRAS and GNAS mutations in cell‐free DNA and in circulating epithelial cells in patients with intraductal papillary mucinous neoplasms—an observational pilot study

Molecular Oncology, EarlyView.
This study demonstrates that KRAS and GNAS mutations are more prevalent in patients with resected intraductal papillary mucinous neoplasms (IPMN) compared to those under clinical surveillance. GNAS mutations significantly differ between the two patient cohorts, indicating that their absence may serve as a potential biomarker to support conservative ...
Christine Nitschke, Marie Tölle, Philipp Walter, Kira Meißner, Mara Goetz, Jolanthe Kropidlowski, Andreas W. Berger, Jakob R. Izbicki, Felix Nickel, Thilo Hackert, Klaus Pantel, Harriet Wikman, Faik G. Uzunoglu   +12 more
wiley   +1 more source

Gene Co-expression Network and Copy Number Variation Analyses Identify Transcription Factors Associated With Multiple Myeloma Progression [PDF]

, 2019
Multiple myeloma (MM) has two clinical precursor stages of disease: monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM). However, the mechanism of progression is not well understood.
Abu Zaid, Mohammad, Han, Zhi, Huang, Kun, Huang, Zhi, Johnson, Travis S., Xiang, Shunian, Yu, Christina Y., Zhan, Xiaohui   +7 more
core   +5 more sources

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

Biological 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, Bing Zhuan, Ying Yan, Simin Jiang, Tao Wang   +4 more
doaj   +1 more source

Cellular liquid biopsy provides unique chances for disease monitoring, preclinical model generation and therapy adjustment in rare salivary gland cancer patients

Molecular Oncology, EarlyView.
We quantified and cultured circulating tumor cells (CTCs) of 62 patients with various cancer types and generated CTC‐derived tumoroid models from two salivary gland cancer patients. Cellular liquid biopsy‐derived information enabled molecular genetic assessment of systemic disease heterogeneity and functional testing for therapy selection in both ...
Nataša Stojanović Gužvić, Florian Lüke, Steffi Treitschke, Andrea Coluccio, Martin Hoffmann, Giancarlo Feliciello, Adithi Ravikumar Varadarajan, Xin Lu, Kathrin Weidele, Catherine Botteron, Silvia Materna–Reichelt, Felix Keil, Katja Evert, Florian Weber, Thomas Schamberger, Michael Althammer, Jirka Grosse, Dirk Hellwig, Christian Schulz, Stephan Seitz, Peter Ugocsai, Anke Schlenska‐Lange, Roman Mayr, Ulrich Kaiser, Wolfgang Dietmaier, Bernhard Polzer, Jens Warfsmann, Kamran Honarnejad, Tobias Pukrop, Daniel Heudobler, Christoph A. Klein, Christian Werno   +31 more
wiley   +1 more source

Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans. [PDF]

, 2019
The immunoglobulin heavy variable (IGHV) and T cell beta variable (TRBV) loci are among the most complex and variable regions in the human genome.
Li, Heng, Luo, Shishi, Song, Yun, Yu, Jane   +3 more
core