Results 61 to 70 of about 193,929 (313)

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

Gene Analysis for the Sudden Death of Hypertrophic Cardiomyopathy by Whole Exome Sequencing [PDF]

Fayixue Zazhi, 2017
Objective To analyze the related pathogenicity gene mutations in a sudden death of hypertrophic cardiomyopathy （HCM） on whole exome level. Methods Whole exome sequencing （WES） was been performed on a sudden death case sample with pathological features of
XU CHUAN-CHAO, BAI YUN-ZHI, XU XIN-SHU, ET AL.
doaj   +1 more source

MET and NF2 alterations confer primary and early resistance to first‐line alectinib treatment in ALK‐positive non‐small‐cell lung cancer

Molecular Oncology, EarlyView.
Alectinib resistance in ALK+ NSCLC depends on treatment sequence and EML4‐ALK variants. Variant 1 exhibited off‐target resistance after first‐line treatment, while variant 3 and later lines favored on‐target mutations. Early resistance involved off‐target alterations, like MET and NF2, while on‐target mutations emerged with prolonged therapy.
Jie Hu, Ning Ding, Xiaobo Xu, Yedan Chen, Yong Zhang, Jingwen Liu, Jiebai Zhou, Hairong Bao, Donghui Zhang, Yijun Song, Yang Shao, Yuanlin Song   +11 more
wiley   +1 more source

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Nature Communications, 2017
Identifying the mutational landscape of tumours from cell-free DNA in the blood could help diagnostics in cancer. Here, the authors present ichorCNA, software that quantifies tumour content in cell free DNA, and they demonstrate that cell-free DNA whole ...
Viktor A. Adalsteinsson, Gavin Ha, Samuel S. Freeman, Atish D. Choudhury, Daniel G. Stover, Heather A. Parsons, Gregory Gydush, Sarah C. Reed, Denisse Rotem, Justin Rhoades, Denis Loginov, Dimitri Livitz, Daniel Rosebrock, Ignaty Leshchiner, Jaegil Kim, Chip Stewart, Mara Rosenberg, Joshua M. Francis, Cheng-Zhong Zhang, Ofir Cohen, Coyin Oh, Huiming Ding, Paz Polak, Max Lloyd, Sairah Mahmud, Karla Helvie, Margaret S. Merrill, Rebecca A. Santiago, Edward P. O’Connor, Seong H. Jeong, Rachel Leeson, Rachel M. Barry, Joseph F. Kramkowski, Zhenwei Zhang, Laura Polacek, Jens G. Lohr, Molly Schleicher, Emily Lipscomb, Andrea Saltzman, Nelly M. Oliver, Lori Marini, Adrienne G. Waks, Lauren C. Harshman, Sara M. Tolaney, Eliezer M. Van Allen, Eric P. Winer, Nancy U. Lin, Mari Nakabayashi, Mary-Ellen Taplin, Cory M. Johannessen, Levi A. Garraway, Todd R. Golub, Jesse S. Boehm, Nikhil Wagle, Gad Getz, J. Christopher Love, Matthew Meyerson   +56 more
doaj   +1 more source

Palindromic length sequence of the ruler sequence and of the period-doubling sequence [PDF]

arXiv, 2020
In this article, we study the palindromic length sequences of the ruler sequence and of the period-doubling sequence. We give a precise formula of the palindromic length sequence of the first one and find a lower bound of the limit superior of the palindromic length sequence of the last one.
arxiv  

New Optimal Binary Sequences with Period $4p$ via Interleaving Ding-Helleseth-Lam Sequences [PDF]

Designs, Codes & Cryptography, 2017, 2017
Binary sequences with optimal autocorrelation play important roles in radar, communication, and cryptography. Finding new binary sequences with optimal autocorrelation has been an interesting research topic in sequence design. Ding-Helleseth-Lam sequences are such a class of binary sequences of period $p$, where $p$ is an odd prime with $p\equiv 1 ...
arxiv   +1 more source

The promise of whole-exome sequencing in medical genetics [PDF]

Journal of Human Genetics, 2013
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different DNA strands at once. These technologies are revolutionizing our understanding in medical genetics, accelerating health-improvement projects, and ushering to a fully understood personalized medicine in near future.
Rabbani, B., Tekin, M., Mahdieh, N.
openaire   +3 more sources

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

npj Genomic Medicine, 2017
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.
Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady   +12 more
doaj   +1 more source

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

BMC Medical Genomics, 2012
Background Massively-parallel sequencing (MPS) technologies create challenges for informed consent of research participants given the enormous scale of the data and the wide range of potential results.
Facio Flavia M, Sapp Julie C, Linn Amy, Biesecker Leslie G   +3 more
doaj   +1 more source

Linear Complexity of Geometric Sequences Defined by Cyclotomic Classes and Balanced Binary Sequences Constructed by the Geometric Sequences [PDF]

, 2018
Pseudorandom number generators are required to generate pseudorandom numbers which have good statistical properties as well as unpredictability in cryptography. An m-sequence is a linear feedback shift register sequence with maximal period over a finite field.
arxiv   +1 more source