Non-Invasive Detection of Breast Cancer by Low-Coverage Whole-Genome Sequencing from Plasma by Li Peng, Ru Yao, Sihang Gao, Yang Qu, Li Qu, Jingbo Zhang, Yidong Zhou

“…Our approach adopted principal component analysis and a generalized linear model algorithm to distinguish between breast cancer and normal samples. …”
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Estimating whole-body centre of mass sway during quiet standing with inertial measurement units. by Liam H Foulger, Emma R Reiter, Calvin Kuo, Mark G Carpenter, Jean-Sébastien Blouin

“…These results indicate that IMUs can be used to estimate CoM displacements during quiet standing and that four IMUs are necessary to do so. Using an algorithm based on a simple biomechanical model, researchers and clinicians can estimate whole-body CoM displacements accurately during unperturbed quiet standing. …”
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Whole slide image based prognosis prediction in rectal cancer using unsupervised artificial intelligence by Xuezhi Zhou, Jing Dai, Yizhan Lu, Qingqing Zhao, Yong Liu, Chang Wang, Zongya Zhao, Chong Wang, Zhixian Gao, Yi Yu, Yandong Zhao, Wuteng Cao

“…This paper aims to construct a prognostic signature from whole slide images for predicting progression-free survival (PFS) of rectal cancer through an unsupervised artificial intelligence algorithm. …”
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Whole genome sequencing improves tissue-of-origin diagnosis and treatment options for cancer of unknown primary by Richard J. Rebello, Atara Posner, Ruining Dong, Owen W. J. Prall, Tharani Sivakumaran, Camilla B. Mitchell, Aidan Flynn, Alex Caneborg, Catherine Mitchell, Sehrish Kanwal, Clare Fedele, Samantha Webb, Krista Fisher, Hui-Li Wong, Shiva Balachander, Wenying Zhu, Shannon Nicolson, Voula Dimitriadis, Nicholas Wilcken, Anna DeFazio, Bo Gao, Madhu Singh, Ian M. Collins, Christopher Steer, Mark Warren, Narayan Karanth, Huiling Xu, Andrew Fellowes, Rodney J. Hicks, Kym Pham Stewart, Charles Shale, Peter Priestley, Sarah-Jane Dawson, Joseph H. A. Vissers, Stephen B. Fox, Penelope Schofield, David Bowtell, Oliver Hofmann, Sean M. Grimmond, Linda Mileshkin, Richard W. Tothill

“…Curated WGTS features and a CUP prediction algorithm (CUPPA) trained on WGTS data of known cancer types informs TOO in 71% of cases otherwise undiagnosed by clinicopathology review. …”
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Reach&Grasp: a multimodal dataset of the whole upper-limb during simple and complex movements by Dario Di Domenico, Inna Forsiuk, Simon Müller-Cleve, Simone Tanzarella, Florencia Garro, Andrea Marinelli, Michele Canepa, Matteo Laffranchi, Michela Chiappalone, Chiara Bartolozzi, Lorenzo De Michieli, Nicolò Boccardo, Marianna Semprini

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Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics by Hyeji Lee, Wooheon Kim, Nahyeon Kwon, Chanhee Kim, Sungmin Kim, Joon-Yong An

“…Abstract Large-scale national biobank projects utilizing whole-genome sequencing have emerged as transformative resources for understanding human genetic variation and its relationship to health and disease. …”
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Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing by Ning Zhang, Ning Zhang, Ning Zhang, Shuoming You, Shuoming You, Jingjing Guo, Jingjing Guo, Xingyu Chang, Xingyu Chang, Junjun Qiu, Junjun Qiu, Keqin Hua, Keqin Hua

“…These variant sites are conserved among species and were predicted to be damaging according to functional algorithms and protein analyses. Additionally, 71.4% of the GATA4 amino acid changes in 46,XY GD were located in or close to the N-terminal zinc finger (N-ZF) domain. …”
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Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations. by Katherine R Bull, Andrew J Rimmer, Owen M Siggs, Lisa A Miosge, Carla M Roots, Anselm Enders, Edward M Bertram, Tanya L Crockford, Belinda Whittle, Paul K Potter, Michelle M Simon, Ann-Marie Mallon, Steve D M Brown, Bruce Beutler, Christopher C Goodnow, Gerton Lunter, Richard J Cornall

“…In this strategy, we use a modification of the Lander-Green algorithm to isolate causative recessive and dominant mutations, even at low coverage, on a pure strain background. …”
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Systematic review and meta-analysis of deep learning for MSI-H in colorectal cancer whole slide images by Huo Li, Jing Qin, Zhongzhuan Li, Rong Ouyang, Zhixin Chen, Shijiang Huang, Shufen Qin, Qiliang Huang

“…Abstract This meta-analysis evaluated diagnostic performance of deep learning (DL) algorithms using whole slide images (WSIs) for detecting microsatellite instability-high (MSI-H) in colorectal cancer (CRC). …”
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Whole genome resequencing reveals genetic diversity, population structure, and selection signatures in local duck breeds by Pengwei Ren, Yongdong Peng, Liu Yang, Muhammad Zahoor Khan, Yadi Jing, Chao Qi, Zhansheng Liu, Shuer Zhang, Nenzhu Zheng, Meixia Zhang, Xiang Liu, Zhiming Zhu, Mingxia Zhu

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Genome-wide expression in human whole blood for diagnosis of latent tuberculosis infection: a multicohort research by Fan Jiang, Fan Jiang, Fan Jiang, Yanhua Liu, Linsheng Li, Linsheng Li, Ruizi Ni, Ruizi Ni, Yajing An, Yajing An, Yufeng Li, Yufeng Li, Lingxia Zhang, Wenping Gong

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Long-read whole genome sequencing and comparative analysis of six strains of the human pathogen Orientia tsutsugamushi. by Elizabeth M Batty, Suwittra Chaemchuen, Stuart Blacksell, Allen L Richards, Daniel Paris, Rory Bowden, Caroline Chan, Ramkumar Lachumanan, Nicholas Day, Peter Donnelly, Swaine Chen, Jeanne Salje

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Publicly available datasets of breast histopathology H&E whole-slide images: A scoping review by Masoud Tafavvoghi, Lars Ailo Bongo, Nikita Shvetsov, Lill-Tove Rasmussen Busund, Kajsa Møllersen

“…In this scoping review, we identified the publicly available datasets of breast H&E-stained whole-slide images (WSIs) that can be used to develop deep learning algorithms. …”
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Wide-Field High-Speed Scanning Acoustic/Photoacoustic Microscopy for Whole-Body Imaging of Small Animals by Joongho Ahn, Hyoseok Choi, Seongjun Lim, Jin Young Kim, Jeongwoo Park

“…To achieve wide-field imaging, various image mosaic algorithms have been applied, but these methods require multiple manual operations, which take more time than the imaging itself. …”
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Identification of novel biomarkers involved in oral squamous cell carcinoma by whole transcriptome sequencing and bioinformatics analysis by Hongliang Du, Zhenze Wang, Mengyi Qi, Yunqing Pang, Qingling Lin, Dengqi He, Jing Wang

“…Potential biomarkers were then identified using five algorithms from CytoHubba. Biomarkers were validated via univariate Cox regression and Kaplan–Meier (K–M) survival analysis. …”
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3D convolutional deep learning for nonlinear estimation of body composition from whole body morphology by Isaac Y. Tian, Jason Liu, Michael C. Wong, Nisa N. Kelly, Yong E. Liu, Andrea K. Garber, Steven B. Heymsfield, Brian Curless, John A. Shepherd

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COMBINED ANALYSIS OF LINKAGE AND WHOLE EXOME SEQUENCING REVEALS CIC AS A CANDIDATE GENE FOR ISOLATED DYSTONIA by Barış Salman, Emrah Yücesan, Bedia Samancı, Başar Bilgiç, Haşmet Ayhan Hanağası, İbrahim Hakan Gürvit, Uğur Özbek, Sibel Aylin Uğur İşeri

“…Material and Method: We employed whole genome Single Nucleotide Polymorphism (SNP) based linkage analysis along with whole exome sequencing (WES) in a consanguineous family presenting with isolated dystonia. …”
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Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma. by Aitana Avendaño Pomares, Laura Rodríguez Merino, Sonia González, Jordi Morata, Raúl Tonda, Patricia Arribas, José Revert, Estrella Carrillo, Carlos Grande, Josep Maria Roncero, Jaime Pérez de Oteyza, Concepción Nicolás, Norma Gutierrez, Pau Abrisqueta, Antonio Gutiérrez, Ángel Ramírez-Páyer, Alejandro Martin Garcia-Sancho, Eva González-Barca, Santiago Montes-Moreno, GELTAMO group (Grupo Español de Linfomas y Trasplante Autólogo de Medula Osea), Spain

“…Recently, genomic-based algorithms have been proposed for the classification of this disease. …”
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Machine learning of whole-brain resting-state fMRI signatures for individualized grading of frontal gliomas by Yue Hu, Xin Cao, Hongyi Chen, Daoying Geng, Kun Lv

“…We developed a noninvasive machine learning model leveraging whole-brain resting-state functional magnetic resonance imaging (rs-fMRI) biomarkers to discriminate high-grade (HGGs) and low-grade gliomas (LGGs) in the frontal lobe. …”
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Novel estrogen-related gene variants identified by whole-exome sequencing in pregnancy-associated intrahepatic cholestasis by Hua Lai, Siming Xin, Jinliang Zhang, Yang Hu, Wenjuan Fan, Hong Wan, Bowen Chen, Yang Zou, Xiaoming Zeng, Xianxian Liu

“…Accordingly, we conducted whole-exome sequencing (WES) in 249 patients with ICP, focusing on eight key estrogen-related genes (ESR1/2, CYP17A1/19A1, CYP1A2/1B1/3A4, and COMT). …”
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