Results 131 to 140 of about 5,449,771 (353)

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
David T. Miller, Kristy Lee, A. Gordon, L. Amendola, Kathy Adelman, S. Bale, W. Chung, M. Gollob, S. Harrison, G. Herman, R. E. Hershberger, T. Klein, K. Mckelvey, C. Richards, C. Vlangos, D. Stewart, M. Watson, C. Martin   +17 more
semanticscholar   +1 more source

Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma

Molecular Oncology, EarlyView.
This study leveraged public datasets and integrative bioinformatic analysis to dissect malignant cell heterogeneity between relapsed and primary HCC, focusing on intercellular communication, differentiation status, metabolic activity, and transcriptomic profiles.
Wen‐Jing Wu, Jianchao Wang, Fuqing Chen, Xuefeng Wang, Bin Lan, Ruyi Fu, Hong Wen, Fangfang Chen, Wei Hong, Tian‐Yu Tang, Ying He, Gang Chen, Jianyin Zhou, Hai‐Long Piao, Di Chen, Shu‐Yong Lin   +15 more
wiley   +1 more source

An open resource of structural variation for medical and population genetics

, 2019
Structural variants (SVs) rearrange the linear and three-dimensional organization of the genome, which can have profound consequences in evolution, diversity, and disease.
Ryan L. Collins, H. Brand, K. Karczewski, Xuefang Zhao, Jessica Alföldi, A. Khera, L. Francioli, L. Gauthier, Harold Wang, N. Watts, M. Solomonson, A. O’Donnell-Luria, Alexander Baumann, Ruchi Munshi, Chelsea Lowther, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, M. Stone, E. Valkanas, Jack M. Fu, G. Tiao, Kristen M. Laricchia, C. Stevens, N. Gupta, L. Margolin, J. Spertus, K. Taylor, Henry J. Lin, S. Rich, W. Post, Y. Ida Chen, J. Rotter, C. Nusbaum, A. Philippakis, E. Lander, S. Gabriel, B. Neale, S. Kathiresan, M. Daly, E. Banks, D. MacArthur, M. Talkowski   +44 more
semanticscholar   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

Stealing the riches: using the human genome project for livestock research [PDF]

, 2002
The document attached has been archived with permission from the Australian Association of Cattle Veterinarians.The human genome project has brought a new era not only to medical genetics, but also to livestock molecular genetics.
Bottema, C.
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The atypical KRASQ22K mutation directs TGF‐β response towards partial epithelial‐to‐mesenchymal transition in patient‐derived colorectal cancer tumoroids

Molecular Oncology, EarlyView.
TGF‐β has a complex role in cancer, exhibiting both tumor‐suppressive and tumor‐promoting properties. Using a series of differentiated tumoroids, derived from different stages and mutational background of colorectal cancer patients, we replicate this duality of TGF‐β in vitro. Notably, the atypical but highly aggressive KRASQ22K mutation rendered early‐
Theresia Mair, Philip König, Milena Mijović, Jessica Kalla, Anil Baskan, Loan Tran, Kristina Draganić, Pedro Morata Saldaña, Carlos Uziel Pérez Malla, Janette Pfneissl, Andreas Tiefenbacher, Julijan Kabiljo, Velina S. Atanasova, Lisa Wozelka‐Oltjan, Leonhard Müllauer, Michael Bergmann, Raheleh Sheibani‐Tezerji, Gerda Egger   +17 more
wiley   +1 more source

VIEWS OF GROUP OF PHISICIANS, NURCES AND MIDWIVES ON ETHICAL PRINCIPLES IN MEDICAL GENETICS, IN TEHRAN

Iranian Journal of Public Health, 1999
In 1998 international guidelines on principles of ethics in medical genetics and genetic services was edited and provided by the World Health Organization.
D.D. Farhud, N. Nickzat, M. Mahmoodi   +2 more
doaj  

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
C. Rehder, Lora J. H. Bean, D. Bick, E. Chao, W. Chung, Soma Das, Julianne M. O’Daniel, H. Rehm, V. Shashi, L. Vincent   +9 more
semanticscholar   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

Теоретические и социокультурные предпосылки изучения наследственных заболеваний человека: историческая ретроспектива и современное положение [PDF]

, 2015
Рассмотрены процессы зарождения и становления медицинской генетики на основе анализа когнитивных и социокультурных факторов, оказавших влияние на развитие данной научной области.
Фандо, Р.А.
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