Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome by Elisabetta Toriello, Rosa Maritato, Antonio De Rosa, Maria Valeria Esposito, Carla Damiano, Carla Damiano, Carmen Rosano, Emilia Cirillo, Antonietta Tarallo, Antonietta Tarallo, Cosimo Abagnale, Francesca Cillo, Roberta Romano, Laura Grilli, Marika Comegna, Marika Comegna, Giancarlo Blasio, Giancarlo Parenti, Giancarlo Parenti, Enrico Maria Surace, Giuseppe Castaldo, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino

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Pilot study on the impact of HIFU treatment on miRNA profiles in vaginal secretions of uterine fibroids and adenomyosis patients by Wei-Chun Chen, Ting-Chang Chang, Lynn Perera, Mei-Hsiu Cheng, Jun-Jie Hong, Chao-Min Cheng

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Combination of metagenomic next-generation sequencing and morphology for identifying Coccidioides immitis: a case report by Hong Liu, Kaixin Zhou, Chaoran Zhong, Ming Guan

Subjects: “…metagenomic next-generation sequencing (mNGS)…”
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Homologous recombination deficiency test validation in patients with high-grade advanced ovarian cancer by Angelica Nogueira Rodrigues, Andreza Karine de Barros Almeida Souto, Diocésio Alves Pinto de Andrade, Larissa Müller Gomes, Sandra Satie Koide, Renata de Godoy e Silva, Bruno Batista de Souza, Juliana Doblas Massaro, Andréia Cristina de Melo, Andrea Morais Borges, Camila Giro, Carlos Augusto Vasconcelos de Andrade, Cesar Martins da Costa, Daniel Luiz Gimenes, Eduardo Caminha Bandeira de Mello, Fernanda Cesar de Oliveira, Frederico Müller de Toledo Lima, Gabriel Lima Lopes, Gustavo de Oliveira Bretas, Gustavo Guerra Jacob, Herika Lucia da Costa Silva, Juliana Ferrari Notaro, Lara Ladislau Alves, Marcos Veloso Moitinho, Mirian Cristina da Silva, Roberto Abramoff, Thais Amaral da Cunha Rauber, Rodrigo Dienstmann, Fernanda Christtanini Koyama

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Retrospective analysis of 300 microbial cell-free DNA sequencing results in routine blood stream infection diagnostics by Claudio Neidhöfer, Claudio Neidhöfer, Niklas Klein, Niklas Klein, Aylin Yürüktümen, Tessa Hattenhauer, Rebekka Mispelbaum, Christian Bode, Tobias A. W. Holderried, Achim Hoerauf, Marijo Parčina

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Unraveling the Genetic Heartbeat: Decoding Cardiac Involvement in Duchenne Muscular Dystrophy by Valeria Novelli, Francesco Canonico, Renzo Laborante, Martina Manzoni, Alessandra Arcudi, Giulio Pompilio, Eugenio Mercuri, Giuseppe Patti, Domenico D’Amario

Subjects: “…next-generation sequencing…”
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Application of Targeted Next-Generation Sequencing in Bronchoalveolar Lavage Fluid for the Detection of Pathogens in Pulmonary Infections by Dai X, Xu K, Tong Y, Li J, Dai L, Shi J, Xie H, Chen X

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CaGe: A Web-Based Cancer Gene Annotation System for Cancer Genomics by Young-Kyu Park, Tae-Wook Kang, Su-Jin Baek, Kwon-Il Kim, Seon-Young Kim, Doheon Lee, Yong Sung Kim

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Investigation of interleukin-4 (IL-4) and leukotriene C4 synthase (LTC4S) genes in patients with asthma by next-generation sequencing analysis by Muhammet Mesut Nezir Engin, Önder Kılıçaslan, Recep Eröz, Öner Özdemir, Ramazan Temizkan, Kenan Kocabay

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The impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer: a Chinese experience by Qian Zheng, Qian Zheng, Qian Zheng, Di Shao, Jin Shu, Jin Shu, Jin Shu, Qin Zhang, Qin Zhang, Qin Zhang, Min Huang, Dong Wang, Dong Wang, Dong Wang, Dongling Zou, Dongling Zou, Dongling Zou

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Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders by Michał Patalan, Alicja Leśniak, Justyna Paprocka, Agnieszka Zubkiewicz-Kucharska, Kaja Giżewska-Kacprzak, Marta Glińska, Lidia Babiak-Choroszczak, Maria Giżewska, Robert Śmigiel

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A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice by Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

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Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases by Gerald Goh, Murim Choi

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misMM: An Integrated Pipeline for Misassembly Detection Using Genotyping-by-Sequencing and Its Validation with BAC End Library Sequences and Gene Synteny by Young-Joon Ko, Jung Sun Kim, Sangsoo Kim

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Diagnostic impact of DNA methylation classification in adult and pediatric CNS tumors by Laetitia Lebrun, Nathalie Gilis, Manon Dausort, Chloé Gillard, Stefan Rusu, Karim Slimani, Olivier De Witte, Fabienne Escande, Florence Lefranc, Nicky D’Haene, Claude Alain Maurage, Isabelle Salmon

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Clinical diagnosis of Q fever by targeted next-generation sequencing for identification of Coxiella burnetii by Shaohua Zhan, Haoyuan Jin, Hanbing Ji, Xin Hou, Jing Li, Ye Zhang, Jiajia Zheng, Liyan Cui

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Dataset for comparative analysis of precision metagenomics and traditional methods in urinary tract infection diagnosticsNCBI by Rob E. Carpenter, Sadia Almas, Vaibhav K. Tamrakar, Rahul Sharma

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MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant by In-Pyo Baek, Yong-Bok Jeong, Seung-Hyun Jung, Yeun-Jun Chung

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Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in <i>MYD88</i> Gene: A Founder Effect? by Roberta Romano, Francesca Cillo, Laura Grilli, Alessio Ciaccio, Lorenzo Bufalo, Elisabetta Toriello, Antonio De Rosa, Carmen Rosano, Emilia Cirillo, Giancarlo Blasio, Marika Comegna, Carmela Di Domenico, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino

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Influence of selected dosages of plastic microparticles on the porcine fecal microbiome by Ismena Gałęcka, Andrzej Rychlik, Jarosław Całka

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