Results 31 to 40 of about 288,183 (227)

Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell [PDF]

, 2013
Kindred cells can have different genomes because of dynamic changes in DNA. Single cell sequencing is needed to characterize these genomic differences but has been hindered by whole-genome amplification bias, resulting in low genome coverage.
Chapman, Alec Randolph, Xie, Xiaoliang Sunney, Zong, Chenghang   +2 more
core   +1 more source

A genetic risk score for glioblastoma multiforme based on copy number variations

Cancer Treatment and Research Communications, 2021
Glioblastoma multiforme is the most common form of brain cancer. Several lines of evidence suggest that glioblastoma multiforme has a genetic basis. A genetic test that could identify people who are at high risk of developing glioblastoma multiforme ...
Charmeine Ko, James P. Brody
doaj   +1 more source

Highly Variable Genomic Landscape of Endogenous Retroviruses in the C57BL/6J Inbred Strain, Depending on Individual Mouse, Gender, Organ Type, and Organ Location. [PDF]

, 2017
Transposable repetitive elements, named the "TREome," represent ~40% of the mouse genome. We postulate that the germ line genome undergoes temporal and spatial diversification into somatic genomes in conjunction with the TREome activity.
Cho, Kiho, Greenhalgh, David, Lee, Kang-Hoon, Lim, Debora   +3 more
core   +2 more sources

Whole genome analysis of a wine yeast strain [PDF]

, 2001
Saccharomyces cerevisiae strains frequently exhibit rather specific phenotypic features needed for adaptation to a special environment. Wine yeast strains are able to ferment musts, for example, while other industrial or laboratory strains fail to do so.
Adams, Bakalinsky, Beissbarth, Bidenne, Boeke, Brachman, Carlson, Cavalieri, Codón, Cox, DeRisi, Galitski, Goffeau, Goto-Yamamoto, Guijo, Hauser, Hoffman, Holstege, Hughes, Jelinsky, Jordan, José E. Pérez-Ortín, Jörg D. Hoheisel, Kunkee, Kurt Fellenberg, Liu, Liu, Masneuf, Naumov, Naumov, Naumov, Ness, Nicole C. Hauser, Park, Pretorius, Puig, Puig, Puig, Querol, Querol, Rachidi, Rosario Gil, Sambrook, Sancho, Sherman, Sonja Bastuck, Ter, Wodicka, Woolford, Zhao   +49 more
core   +3 more sources

New Regions With Molecular Alterations in a Rare Case of Insulinomatosis: Case Report With Literature Review

Frontiers in Endocrinology, 2021
Insulinomatosis is characterized by monohormonality of multiple macro-tumors and micro-tumors that arise synchronously and metachronously in all regions of the pancreas, and often recurring hypoglycemia. One of the main characteristics of insulinomatosis
Kirill Anoshkin, Ivan Vasilyev, Kristina Karandasheva, Mikhail Shugay, Mikhail Shugay, Mikhail Shugay, Valeriya Kudryavtseva, Valeriya Kudryavtseva, Alexey Egorov, Larisa Gurevich, Anna Mironova, Alexey Serikov, Sergei Kutsev, Vladimir Strelnikov   +13 more
doaj   +1 more source

DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing

BMC Genomics, 2010
Background DNA copy number variations occur within populations and aberrations can cause disease. We sought to develop an improved lab-automatable, cost-efficient, accurate platform to profile DNA copy number.
Jackson Stuart, Misura Kira, Chen Ronghua, Xie Tao, Bouzek Heather, Biery Matthew, Castle John C, Armour Christopher D, Johnson Jason M, Rohl Carol A, Raymond Christopher K   +10 more
doaj   +1 more source

AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS):partial gene deletions contribute to APS I [PDF]

, 2008
Udgivelsesdato: MarAutoimmune Addison's disease (AAD) is often associated with other components in autoimmune polyendocrine syndromes (APS). Whereas APS I is caused by mutations in the AIRE gene, the susceptibility genes for AAD and APS II are unclear ...
Bruland, O, Bøe Wolff, A S, Husebye, E S, Johansson, S, Knappskog, P M, Løvås, K, Meager, A, Oftedal, B, Pedersen, Carsten   +8 more
core   +1 more source

Copy number variations in urine cell-free DNA from bladder neoplasm patients

Molecular and Cellular Probes
Bladder cancer is a common malignancy, and its diagnosis is based on invasive procedures such as cystoscopy. Genetic aberrations play an important role in the development of many diseases, including bladder cancer.
Cuello Garcia Haider, Qichao Wang, Guangyue Wang, Yinfeng Wang, Yutong Fu, Zhoufan Zhang, Changling Cao, Fengcheng Xue, Haitao Liu, Qian Wang, Jie Zhou, Tingya Jiang, Jingyi Cao, Yang Zhou   +13 more
doaj   +1 more source

Genomic variations associated with attenuation in Mycobacterium avium subsp paratuberculosis vaccine strains [PDF]

, 2013
BACKGROUND: Mycobacterium avium subspecies paratuberculosis (MAP) whole cell vaccines have been widely used tools in the control of Johne's disease in animals despite being unable to provide complete protection. Current vaccine strains derive from stocks
Bull, TJ, Greene, M, Linedale, R, McKendrick, IJ, Sales, J, Schock, A, Sharp, JM, Stevenson, K   +7 more
core   +1 more source

Detection of erbB2 copy number variations in plasma of patients with esophageal carcinoma

BMC Cancer, 2011
Background Mortality is high in patients with esophageal carcinoma as tumors are rarely detected before the disease has progressed to an advanced stage.
Iolascon Achille, Troncone Giancarlo, Gemei Marica, Montanaro Donatella, Capasso Mario, De Antonellis Pasqualino, Vecchione Loredana, Petrosino Giuseppe, Andolfo Immacolata, Orditura Michele, Ciardiello Fortunato, De Vita Fernando, Zollo Massimo   +12 more
doaj   +1 more source