Results 91 to 100 of about 10,877,278 (223)

Extensive horizontal gene transfer during Staphylococcus aureus co-colonization in vivo. [PDF]

, 2014
Staphylococcus aureus is a commensal and major pathogen of humans and animals. Comparative genomics of S. aureus populations suggests that colonization of different host species is associated with carriage of mobile genetic elements (MGE), particularly ...
Gould, KA, Lindsay, JA, Lloyd, DH, Loeffler, A, McCarthy, AJ, Witney, AA   +5 more
core   +1 more source

Evaluation of Genome Wide Association Study Associated Type 2 Diabetes Susceptibility Loci in Sub Saharan Africans

Frontiers in Genetics, 2015
Genome wide association studies (GWAS) for type 2 diabetes (T2D) undertaken in European and Asian ancestry populations have yielded dozens of robustly associated loci. However, the genomics of T2D remains largely understudied in sub-Saharan Africa (SSA),
Adebowale eAdeyemo, Fasil eTekola-Ayele, Ayo Priscille Doumatey, Amy R Bentley, Guanjie eChen, Hanxia eHuang, Jie eZhou, Daniel eShriner, Olufemi eFasanmade, Godfrey eOkafor, Benjamin eEghan, Kofi eAgyenim-Boateng, Jokotade eAdeleye, Williams eBalogun, Abdel eElkahloun, Settara eChandrasekharappa, Samuel eOwusu, Albert eAmoah, Joseph eAcheampong, Thomas eJohnson, Johnnie eOli, Clement eAdebamowo, Francis eCollins, Georgia eDunston, Charles eRotimi   +24 more
doaj   +1 more source

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Nature Genetics, 2018
Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially ...
I. Cortés-Ciriano, J. Lee, Ruibin Xi, D. Jain, Y. L. Jung, Lixing Yang, D. Gordenin, L. Klimczak, Cheng-Zhong Zhang, D. Pellman, Kadir C. Eva G. Adrian Rameen Paul C. David D. L. Benedi Akdemir Alvarez Baez-Ortega Beroukhim Boutros Bowt, K. Akdemir, Eva G. Álvarez, A. Baez-Ortega, R. Beroukhim, P. Boutros, D. Bowtell, B. Brors, K. Burns, Peter J. Campbell, Kin Chan, Ken Chen, I. Cortés-Ciriano, Ana Dueso-Barroso, Andrew J. Dunford, Paul A. Edwards, X. Estivill, D. Etemadmoghadam, L. Feuerbach, J. Fink, M. Frenkel-Morgenstern, D. W. Garsed, Marc H. Gerstein, D. Gordenin, D. Haan, James E. Haber, J. Hess, B. Hutter, M. Imieliński, David C. Jones, Y. Ju, M. Kazanov, L. Klimczak, Y. Koh, J. Korbel, K. Kumar, E. Lee, J. Lee, Yilong Li, A. Lynch, G. Macintyre, F. Markowetz, I. Martincorena, Alexander Martínez-Fundichely, Satoru Miyano, H. Nakagawa, Fábio C. P. Navarro, S. Ossowski, Peter J. Park, John V. Pearson, Montserrat Puiggrós, K. Rippe, Nicola D. Roberts, S. Roberts, Bernardo Rodriguez-Martin, S. Schumacher, R. Scully, M. Shackleton, N. Sidiropoulos, L. Sieverling, C. Stewart, D. Torrents, J. Tubío, I. Villasante, N. Waddell, J. Wala, Joachim Weischenfeldt, Lixing Yang, Xiaotong Yao, Sung-Soo Yoon, Jorge Zamora, Cheng-Zhong Zhang, Peter J. Park   +82 more
semanticscholar   +1 more source

REAPR: a universal tool for genome assembly evaluation. [PDF]

, 2013
Methods to reliably assess the accuracy of genome sequence data are lacking. Currently completeness is only described qualitatively and mis-assemblies are overlooked.
Berriman, Matthew, Hunt, Martin, Kikuchi, Taisei, Newbold, Chris, Otto, Thomas D, Sanders, Mandy   +5 more
core   +2 more sources

A Transcriptomic and Epigenomic Comparison of Fetal and Adult Human Cardiac Fibroblasts Reveals Novel Key Transcription Factors in Adult Cardiac Fibroblasts

JACC: Basic to Translational Science, 2016
Cardiovascular disease remains the number one global cause of death and presents as multiple phenotypes in which the interplay between cardiomyocytes and cardiac fibroblasts (CFs) has become increasingly highlighted.
Malin K.B. Jonsson, PhD, Robin J.G. Hartman, MSc, Matthew Ackers-Johnson, PhD, Wilson L.W. Tan, BSc, Bing Lim, MD, PhD, Toon A.B. van Veen, PhD, Roger S. Foo, MD   +6 more
doaj   +1 more source

Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients

Egyptian Journal of Medical Human Genetics, 2020
Background Spinal muscular atrophy (SMA) is the most common autosomal recessive disorder in humans after cystic fibrosis. It is classified into five clinical grades based on age of onset and severity of the disease.
Heba Amin Hassan, Maha Saad Zaki, Mahmoud Yousry Issa, Nagham Maher El-Bagoury, Mona Lotfi Essawi   +4 more
doaj   +1 more source

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Orphanet Journal of Rare Diseases, 2019
Background Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with ...
Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico   +11 more
doaj   +1 more source

Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype

Journal of Rare Diseases
Introduction Wilms tumor 1 (WT1)-related disorders are a group of hereditary disorders caused by alterations in the WT1 gene. WT1 expression is critical for the maturation of many organs, such as the gonads, kidneys, and spleen.
Heba A. Hassan, Inas Mazen, Mona K. Mekkawy, Aya Elaidy, Alaa Kamel, Mona L. Essawi   +5 more
doaj   +1 more source

PLINK: a tool set for whole-genome association and population-based linkage analyses.

American Journal of Human Genetics, 2007
Whole-genome association studies (WGAS) bring new computational, as well as analytic, challenges to researchers. Many existing genetic-analysis tools are not designed to handle such large data sets in a convenient manner and do not necessarily exploit ...
S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M. Ferreira, David Bender, J. Maller, P. Sklar, P. D. de Bakker, M. Daly, P. Sham   +10 more
semanticscholar   +1 more source

HERVs, transposons and human diseases : part 3 [PDF]

, 2012
Part 1 and 2 of this article can be found through theses links: https://www.um.edu.mt/library/oar//handle/123456789/12961 https://www.um.edu.mt/library/oar//handle/123456789/13012Part 3 of the article.
Baldacchino, Sandra, Grech, Alfred
core   +1 more source