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Results: 183
Neuronatin deletion causes postnatal growth restriction and adult obesity in 129S2/Sv mice.
Steven J Millership, Simon J Tunster, Mathew Van de Pette, Agharul I Choudhury, Elaine E Irvine, Mark Christian, Amanda G Fisher, Rosalind M John, James Scott, Dominic J Withers
Nov 19, 2018
OBJECTIVE: Imprinted genes are crucial for the growth and development of fetal and juvenile mammals. Altered imprinted gene dosage causes a variety of human disorders, with growth and development during these crucial early...
Genotyping structural variants in pangenome graphs using the vg toolkit
Glenn Hickey, David Heller, Jean Monlong, Jonas A. Sibbesen, Jouni Sirén, Jordan Eizenga, Eric T. Dawson, Erik Garrison, Adam M. Novak, Benedict Paten
Jun 06, 2020
Abstract: Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an...
Integrating Unsupervised and Supervised ML Models for Analysis of Synthetic Data From VAE, GAN, and Clustering of Variables
Lakshmi Prayaga, Krishna Devulapalli, Chandra Prayaga, Aaron Wade, Gopi Reddy, Sri Pola
Jan 01, 2024
Clustering of variables is a specialized approach for dimensionality reduction. This strategy is evaluated for data reduction with a Kaggle diabetes dataset. Since the original dataset is small, Generative Adversarial Networks...
Published by: IGI Global Scientific Publishing
Genotyping structural variants in pangenome graphs using the vg toolkit.
Glenn Hickey, David Heller, Jean Monlong, Jonas A Sibbesen, Jouni Sirén, Jordan Eizenga, Eric T Dawson, Erik Garrison, Adam M Novak, Benedict Paten
Feb 11, 2021
Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an effective means...
Genotyping structural variants in pangenome graphs using the vg toolkit.
Glenn Hickey, David Heller, Jean Monlong, Jonas A Sibbesen, Jouni Sirén, Jordan Eizenga, Eric T Dawson, Erik Garrison, Adam M Novak, Benedict Paten
Mar 15, 2020
Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an effective means...
Published by: Genome biology
Inferring structural variant cancer cell fraction
Marek Cmero, Ke Yuan, Cheng Soon Ong, Jan Schröder, Niall M. Corcoran, Tony Papenfuss, Christopher M. Hovens, Florian Markowetz, Geoff Macintyre, David J. Adams, Pavana Anur, Rameen Beroukhim, Paul C. Boutros, David D. L. Bowtell, Peter J. Campbell, Shaolong Cao, Elizabeth L. Christie, Yupeng Cun, Kevin J. Dawson, Jonas Demeulemeester, Stefan C. Dentro, Amit G. Deshwar, Nilgun Donmez, Ruben M. Drews, Roland Eils, Yu Fan, Matthew W. Fittall, Dale W. Garsed, Moritz Gerstung, Gad Getz, Santiago Gonzalez, Gavin Ha, Kerstin Haase, Marcin Imielinski, Lara Jerman, Yuan Ji, Clemency Jolly, Kortine Kleinheinz, Juhee Lee, Henry Lee-Six, Ignaty Leshchiner, Dimitri Livitz, Salem Malikic, Iñigo Martincorena, Thomas J. Mitchell, Quaid D. Morris, Ville Mustonen, Layla Oesper, Martin Peifer, Myron Peto, Benjamin J. Raphael, Daniel Rosebrock, Yulia Rubanova, S. Cenk Sahinalp, Adriana Salcedo, Matthias Schlesner, Steven E. Schumacher, Subhajit Sengupta, Ruian Shi, Seung Jun Shin, Paul T. Spellman, Oliver Spiro, Lincoln D. Stein, Maxime Tarabichi, Peter Van Loo, Shankar Vembu, Ignacio Vázquez-García, Wenyi Wang, David C. Wedge, David A. Wheeler, Jeffrey A. Wintersinger, Tsun-Po Yang, Xiaotong Yao, Kaixian Yu, Hongtu Zhu
Feb 04, 2021
Abstract: We present SVclone, a computational method for inferring the cancer cell fraction of structural variant (SV) breakpoints from whole-genome sequencing data. SVclone accurately determines the variant allele frequencies...
Inferring structural variant cancer cell fraction.
Marek Cmero, Ke Yuan, Cheng Soon Ong, Jan Schröder, Niall M Corcoran, Tony Papenfuss, Christopher M Hovens, Florian Markowetz, Geoff Macintyre
Mar 10, 2020
We present SVclone, a computational method for inferring the cancer cell fraction of structural variant (SV) breakpoints from whole-genome sequencing data. SVclone accurately determines the variant allele frequencies of both SV...
Published by: Nature Communications
The first magnetic resonance imaging-detected case of bilateral seminal vesicle duplication
Given the increasing use of prostate magnetic resonance imaging (MRI) for imaging suspected cancer and male infertility, understanding imaging features of congenital anomalies of the seminal vesicles (SVs) is of clinical...
Validation of a Non-invasive Inverse Problem-Solving Method for Stroke Volume.
Vasiliki Bikia, Carmel M McEniery, Emma Marie Roussel, Georgios Rovas, Stamatia Pagoulatou, Ian B Wilkinson, Nikolaos Stergiopulos
Feb 09, 2022
Stroke volume (SV) is a major biomarker of cardiac function, reflecting ventricular-vascular coupling. Despite this, hemodynamic monitoring and management seldomly includes assessments of SV and remains predominantly guided by...
Inferring structural variant cancer cell fraction.
Marek Cmero, Ke Yuan, Cheng Soon Ong, Jan Schröder, PCAWG Evolution and Heterogeneity Working Group, Niall M Corcoran, Tony Papenfuss, Christopher M Hovens, Florian Markowetz, Geoff Macintyre, PCAWG Consortium
Dec 18, 2019
We present SVclone, a computational method for inferring the cancer cell fraction of structural variant (SV) breakpoints from whole-genome sequencing data. SVclone accurately determines the variant allele frequencies of both SV...
Rearrangement processes and structural variations show evidence of selection in oesophageal adenocarcinomas.
Alvin Wei Tian Ng, Gianmarco Contino, Sarah Killcoyne, Ginny Devonshire, Ray Hsu, Sujath Abbas, Jing Su, Aisling M Redmond, Jamie MJ Weaver, Matthew Eldridge, Simon Tavaré, Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium, Paul AW Edwards, Rebecca Fitzgerald
Apr 08, 2022
Oesophageal adenocarcinoma (OAC) provides an ideal case study to characterize large-scale rearrangements. Using whole genome short-read sequencing of 383 cases, for which 214 had matched whole transcriptomes, we observed...
Emerging Role of HDACs in Regeneration and Ageing in the Peripheral Nervous System
The peripheral nervous system (PNS) has a remarkable regenerative capacity in comparison to the central nervous system (CNS), a phenomenon that is impaired during ageing. The ability of PNS axons to regenerate after...
Jose A Gomez-Sanchez, Nikiben Patel, Fernanda Martirena, Shaline V Fazal, Clara Mutschler, Hugo Cabedo
Mar 11, 2022
Protein phase separation hotspots at the presynapse.
Janin Lautenschläger
Mar 13, 2022
Fundamental discoveries have shaped our molecular understanding of presynaptic processes, such as neurotransmitter release, active zone organization and mechanisms of synaptic vesicle (SV) recycling. However, certain regulatory...
Rearrangement processes and structural variations show evidence of selection in oesophageal adenocarcinomas.
Alvin Wei Tian Ng, Gianmarco Contino, Sarah Killcoyne, Ginny Devonshire, Ray Hsu, Sujath Abbas, Jing Su, Aisling M Redmond, Jamie MJ Weaver, Matthew D Eldridge, Simon Tavaré, Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium, Paul AW Edwards, Rebecca C Fitzgerald
May 09, 2022
Oesophageal adenocarcinoma (OAC) provides an ideal case study to characterize large-scale rearrangements. Using whole genome short-read sequencing of 383 cases, for which 214 had matched whole transcriptomes, we observed...
Hyperosmotic stress induces cell-dependent aggregation of α-synuclein.
Alexandra MC Fragniere, Simon RW Stott, Shaline V Fazal, Maria Andreasen, Kirsten Scott, Roger A Barker
Jan 17, 2019
Emerging Role of HDACs in Regeneration and Ageing in the Peripheral Nervous System
Jose Antonio Gomez-Sanchez, Nikiben Patel, Fernanda Martirena, Shaline V Fazal, Clara Mutschler, Hugo Cabedo
Apr 24, 2022
Perceptions of Top Management Officials Regarding Operative Factors of TQM at Public Sector Universities of Pakistan
This study sought to explore the perceptions of vice-chancellors, registrars, and deans regarding the operative factors of total quality management at public sector universities of Pakistan. All the top management officials of...
Total quality management Vision and Mission Curriculum Design and Delivery Monitoring and Performances Education
Published by: Department of History, University of Karachi
Protein phase separation hotspots at the presynapse
Janin Lautenschläger
Mar 04, 2022
Fundamental discoveries have shaped our molecular understanding of presynaptic processes, such as neurotransmitter release, active zone organization and mechanisms of synaptic vesicle (SV) recycling. However, certain regulatory...
Entrepreneurial Traits, Competency, Performance, and Sustainability of Micro-Enterprises in Kelantan, Malaysia
This study examined the effects of locus of control, tolerance of ambiguity, vision, persistence, and resilience on entrepreneurial competency, performance, and sustainability among micro-enterprises in Kelantan, Malaysia....
Published by: IGI Global Scientific Publishing
Design and development of a nozzle-free electrospinning device for the high-throughput production of biomaterial nanofibers
Muhammad Waqas, Antonios Keirouz, Maria Kana Sanira Putri, Faraz Fazal, Francisco Javier Diaz Sanchez, Dipa Ray, Vasileios Koutsos, Norbert Radacsi
Jun 30, 2021
This technical note provides a step-by-step guide for the design and construction of a temperature-controlled nozzle-free electrospinning device. The equipment uses a rotating mandrel partially immersed within a polymer...
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