Results 21 to 30 of about 2,613,419 (309)

Single-cell multiomics of the human retina reveals hierarchical transcription factor collaboration in mediating cell type-specific effects of genetic variants on gene regulation

Genome Biology, 2023
Background Systematic characterization of how  genetic variation modulates gene regulation in a cell type-specific context is essential for understanding complex traits.
Jun Wang, Xuesen Cheng, Qingnan Liang, Leah A. Owen, Jiaxiong Lu, Yiqiao Zheng, Meng Wang, Shiming Chen, Margaret M. DeAngelis, Yumei Li, Rui Chen   +10 more
doaj   +1 more source

The sequence of sequencers: The history of sequencing DNA

Genomics, 2016
Determining the order of nucleic acid residues in biological samples is an integral component of a wide variety of research applications. Over the last fifty years large numbers of researchers have applied themselves to the production of techniques and technologies to facilitate this feat, sequencing DNA and RNA molecules. This time-scale has witnessed
Heather, JM, Chain, B
openaire   +3 more sources

On the boundary sequence of an automatic sequence

Discrete Mathematics, 2022
A `boundary' of a word \(w_i\cdots w_{i+n}\) over a finite alphabet is the word \(w_iw_{i+n}\), and the set of all boundaries of words of length \(n+1\) appearing in a sequence \(w=w_1w_2\cdots\) is denoted \(\partial_{w}(n)\), giving a `boundary sequence' \((\partial_w(n))_{n\ge 1}\) associated to \(w\). \textit{J. Chen} and \textit{Z.-X. Wen} [Theor.
Yingjun Guo, Xiao-Tao Lü, Zhi-Xiong Wen
openaire   +1 more source

Authoring courses with rich adaptive sequencing for IMS learning design [PDF]

, 2008
This paper describes the process of translating an adaptive sequencing strategy designed using Sequencing Graphs to the semantics of IMS Learning Design. The relevance of this contribution is twofold.
Gutierrez-Santos, Sergio, Pardo, A., Delgado Kloos, C.   +2 more
core   +5 more sources

Deep convolutional neural networks for accurate somatic mutation detection

Nature Communications, 2019
Somatic mutations are crucial to the understanding of cancer genesis, progression, and treatment, but are still challenging to detect. Here the authors present NeuSomatic, a convolutional neural network approach for accurate somatic mutation detection ...
Sayed Mohammad Ebrahim Sahraeian, Ruolin Liu, Bayo Lau, Karl Podesta, Marghoob Mohiyuddin, Hugo Y. K. Lam   +5 more
doaj   +1 more source

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

BMC Genomics, 2017
Background Characterization of genomic structural variation (SV) is essential to expanding the research and clinical applications of genome sequencing.
Oliver A. Hampton, Adam C. English, Mark Wang, William J. Salerno, Yue Liu, Donna M. Muzny, Yi Han, David A. Wheeler, Kim C. Worley, James R. Lupski, Richard A. Gibbs   +10 more
doaj   +1 more source

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

Molecular Genetics & Genomic Medicine, 2020
Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...
Aniko Sabo, David Murdock, Shannon Dugan, Qingchang Meng, Marie‐Claude Gingras, Jianhong Hu, Donna Muzny, Richard Gibbs   +7 more
doaj   +1 more source

Genomic variant benchmark: if you cannot measure it, you cannot improve it

Genome Biology, 2023
Genomic benchmark datasets are essential to driving the field of genomics and bioinformatics. They provide a snapshot of the performances of sequencing technologies and analytical methods and highlight future challenges.
Sina Majidian, Daniel Paiva Agustinho, Chen-Shan Chin, Fritz J. Sedlazeck, Medhat Mahmoud   +4 more
doaj   +1 more source

ATAC Sequencing Protocol For Cryopreserved Mammalian Cells

Bio-Protocol, 2022
ATAC-seq (assay for transposase-accessible chromatin with high-throughput sequencing) is a powerful method to evaluate chromatin accessibility and nucleosome positioning at a genome-wide scale.
Juan Manuel Caravaca, Monika Mehta, Sujatha Gowda, Bao Tran   +3 more
doaj   +1 more source

Plasma-based longitudinal mutation monitoring as a potential predictor of disease progression in subjects with adenocarcinoma in advanced non-small cell lung cancer

BMC Cancer, 2020
Background Identifying and tracking somatic mutations in cell-free DNA (cfDNA) by next-generation sequencing (NGS) has the potential to transform the clinical management of subjects with advanced non-small cell lung cancer (NSCLC). Methods Baseline tumor
John Jiang, Hans-Peter Adams, Maria Lange, Sandra Siemann, Mirjam Feldkamp, Sylvie McNamara, Sebastian Froehler, Stephanie J. Yaung, Lijing Yao, Aarthi Balasubramanyam, Nalin Tikoo, Christine Ju, H. Jost Achenbach, Rainer Krügel, John F. Palma   +14 more
doaj   +1 more source