Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation by Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson

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Reply by Denis Vincent, MD, PhD, Ludovic Martin, MD, PhD, Sven Cichon, PhD, Christian Drouet, PharmD, PhD, Arije Ghannam, MD PhD

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Accelerating next generation sequencing data analysis: an evaluation of optimized best practices for Genome Analysis Toolkit algorithms by Karl R. Franke, Erin L. Crowgey

“…To enhance the current understanding of software and hardware used to compute large scale human genomic datasets (NGS), the performance and accuracy of optimized versions of GATK algorithms, including Parabricks and Sentieon, were compared to the results of the original application (GATK V4.1.0, Intel x86 CPUs). …”
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The large-scale whole-genome sequencing era expedited medical discovery and clinical translation by Qingxin Yang, Shuhan Duan, Yuguo Huang, Chao Liu, Mengge Wang, Guanglin He

“…Here, a concise overview of the recent revolution in human genomic research is provided, emphasizing how these projects, in the era of large-scale whole-genome sequencing, have advanced genomic science, genomic medicine, and evolutionary genomics, as well as their clinical translational applications in disease prediction, cancer, drug response, and rare disease diagnosis.…”
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Super-enhancers and efficacy of triptolide in small cell carcinoma of the ovary hypercalcemic type by Jessica D. Lang, William Selleck, Shawn Striker, Nicolle A. Hipschman, Rochelle Kofman, Anthony N. Karnezis, Felix K.F. Kommoss, Friedrich Kommoss, Jae Rim Wendt, Salvatore J. Facista, William P.D. Hendricks, Krystal A. Orlando, Patrick Pirrotte, Elizabeth A. Raupach, Victoria L. Zismann, Yemin Wang, David G. Huntsman, Bernard E. Weissman, Jeffrey M. Trent

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The chemistry of gut microbiome in health and diseases by Agnes Wei Yin Lau, Loh Teng-Hern Tan, Nurul-Syakima Ab Mutalib, Sunny Hei Wong, Vengadesh Letchumanan, Learn-Han Lee

“… There are trillions of microbes residing in our body, with their collective genomes much more than human genomes. They have been living in a close relationship with us and play a role in various biological functions. …”
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Genotype-phenotype insights of pediatric dilated cardiomyopathy by Ying Dai, Yan Wang, Youfei Fan, Bo Han

“…Research has shown that DCM exhibits notable genetic heterogeneity, with over 100 DCM-related genes identified to date, primarily involving functions such as calcium handling, the cytoskeleton, and ion channels. As human genomic variations are linked to phenotypes, DCM phenotypes are influenced by numerous genetic variations across the entire genome. …”
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A Survey of SNP Data Analysis by Xiaojun Ding, Xuan Guo

“…As such, differences in human genomes are very worthy of study. Single-Nucleotide Polymorphisms (SNPs) are the simplest form and most common source of genetic polymorphism. …”
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Directions for improving the legal regulation of forensic DNA analysis in Ukraine in the context of integration into the European Union by R. L. Stepaniuk, V. V. Kikinchuk

“…Together with the adoption of the Law of Ukraine “On the State Registration of Human Genomic Information”, it is necessary to introduce changes and additions to the Code of Criminal Procedure of Ukraine in order to harmonize the provisions of these normative legal acts, which primarily concern the improvement of the procedure for obtaining samples for molecular genetic research. …”
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Holarctic phylogeographic structure of Eurasian wigeon (Mareca penelope) by I. V. Kulikova, Y. N. Zhuravlev, I. G. Korobitsyn, G. A. Nemkova, K. G. McCracken, J. L. Peters

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Dynamic Variation in Hippocampal Metabolism after Acute Stress Exposure: An In Vivo Proton Magnetic Resonance Spectroscopy Study at 9.4 T by Yoon Ho Hwang, Min-Hee Lee, Chang-Soo Yun, Yong-Tae Kim, Hyeon-Man Baek, Bong Soo Han, Dong Youn Kim

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Bruton’s tyrosine kinase inhibition re-sensitizes multidrug-resistant DLBCL tumors driven by BCL10 gain-of-function mutants to venetoclax by Caroline A. Coughlin, Dhanvantri Chahar, Marianna Lekakis, Abdessamad A. Youssfi, Lingxiao Li, Evan Roberts, Natalia Campos Gallego, Claude-Henry Volmar, Ola Landgren, Shaun Brothers, Anthony J. Griswold, Catalina Amador, Daniel Bilbao, Francesco Maura, Jonathan H. Schatz

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Sequencing whole genomes of the West Javanese population in Indonesia reveals novel variants and improves imputation accuracy by Edwin Ardiansyah, Anca-Lelia Riza, Sofiati Dian, Sofiati Dian, Ahmad Rizal Ganiem, Ahmad Rizal Ganiem, Bachti Alisjahbana, Bachti Alisjahbana, Todia P. Setiabudiawan, Arjan van Laarhoven, Reinout van Crevel, Vinod Kumar, Vinod Kumar

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In-depth study of the nutritional composition, phytochemicals, antioxidant activity, molecular docking interactions, and toxicological evaluation of Abies marocana Trab. woody biom... by Malak Zirari, Marouane Aouji, Wissal Baghdad, Mohammed Er-rajy, Hamada Imtara, Feras Abujaber, Otmane Elharrati, Omar M. Noman, Mahmoud Tarayrah, Driss Hmouni, Nouredine El Mejdoub

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Enhancing chemotherapy response prediction via matched colorectal tumor-organoid gene expression analysis and network-based biomarker selection by Wei Zhang, Chao Wu, Hanchen Huang, Paulina Bleu, Wini Zambare, Janet Alvarez, Lily Wang, Philip B. Paty, Paul B. Romesser, J. Joshua Smith, X. Steven Chen

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Navigating complex choices through legitimation: Narrative strategies in risk-reduction mastectomy decision-making among unaffected women with genetic risk for breast cancer in Swi... by Maria Caiata-Zufferey, Reka Schweighoffer, Monica Aceti, Carla Pedrazzani, Maria C. Katapodi, Souria Aissaoui, Mekdes Alemu, Murat Aykut, Fulvia Brugnoletti, Rachel Bunger, Nicole Bürki, Pierre O. Chappuis, Muriel Fluri, Rossella Graffeo, Karl Heinimann, Ashley Machen, Christian Monnerat, Olivia Pagani, Manuela Rabaglio, Eveline Schönau, Simon Wieser, Ursina Zürrer-Härdi

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