Search Results - "next generation sequencing"

A next generation targeted amplicon sequencing method to screen for insecticide resistance mutations in Aedes aegypti populations reveals a rdl mutation in mosquitoes from Cabo Ver... by Emma L Collins, Jody E Phelan, Magdalena Hubner, Anton Spadar, Monica Campos, Daniel Ward, Holly Acford-Palmer, Ana Rita Gomes, Keily Silva, Lara Ferrero Gomez, Taane G Clark, Susana Campino

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Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion: a case report by Rong Duan, Xiaojuan He, Xiaojing Ma, Fengbo Huang, Xiangrong Hu

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Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting by AL Soilly, C Robert-Viard, C Besse, AL Bruel, B Gerard, A Boland, A Piton, Y Duffourd, J Muller, C Poë, T Jouan, S El Doueiri, L Faivre, D Bacq-Daian, B Isidor, D Genevieve, S Odent, N Philip, M Doco-Fenzy, D Lacombe, ML Asensio, JF Deleuze, C Binquet, DISSEQ Investigators Group, C Thauvin-Robinet, C Lejeune

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Novel reference genes in colorectal cancer identify a distinct subset of high stage tumors and their associated histologically normal colonic tissues by Lai Xu, Helen Luo, Rong Wang, Wells W. Wu, Je-Nie Phue, Rong-Fong Shen, Hartmut Juhl, Leihong Wu, Wei-lun Alterovitz, Vahan Simonyan, Lorraine Pelosof, Amy S. Rosenberg

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Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome by Kirana Veenin, Duangrurdee Wattanasirichaigoon, Bhoom Suktitipat, Saisuda Noojarern, Patcharee Lertrit, Thipwimol Tim-Aroon, Supannee Kaewsutthi, Suporn Treepongkaruna

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Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes by Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel, Sally J. Dawson

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Measuring the serum progesterone level on the day of transfer can be an additional tool to maximize ongoing pregnancies in single euploid frozen blastocyst transfers by Fazilet Kubra Boynukalin, Meral Gultomruk, Emre Turgut, Berfu Demir, Necati Findikli, Munevver Serdarogullari, Onder Coban, Zalihe Yarkiner, Mustafa Bahceci

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Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center's experience by C. Alexander Valencia, Ammar eHusami, Jennifer eHolle, Judith A. Johnson, Yaping eQian, Abhinav eMathur, Chao eWei, Subba Rao Indugula, Fanggeng eZou, Haiying eMeng, Lijun eWang, Xia eLi, Rachel eFisher, Tony eTan, Amber eHogart Begtrup, Kathleen eCollins, Katie A. Wusik, Derek eNeilson, Thomas eBurrow, Elizabeth eSchorry, Robert eHopkin, Mehdi eKeddache, John Barker Harley, Kenneth M. Kaufman, Kejian eZhang

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Whole-exome sequencing reveals potential mechanisms of drug resistance to FGFR3-TACC3 targeted therapy and subsequent drug selection: towards a personalized medicine by Zhou Tong, Cong Yan, Yu-An Dong, Ming Yao, Hangyu Zhang, Lulu Liu, Yi Zheng, Peng Zhao, Yimin Wang, Weijia Fang, Feifei Zhang, Weiqin Jiang

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Genome analysis and knowledge-driven variant interpretation with TGex by Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet, Simon Fishilevich

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Clinicopathological and genetic characterization of radiotherapy-induced undifferentiated pleomorphic sarcoma following breast cancer: a case series of three tumors and comprehensi... by Ting Lei, Zhiyi Shen, Mengjia Shen, Lingfang Du, Yongqiang Shi, Yan Peng, Zidi Zhou, Wenyue Da, Xi Chen, Qing Li

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CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south IndiaResearch in context by Sneha D. Varkki, Rekha Aaron, Aaron Chapla, Sumita Danda, Priyanka Medhi, N. Jansi Rani, Grace R. Paul

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A genetic predictive model for precision treatment of diffuse large B-cell lymphoma with early progression by Jialin Ma, Zheng Yan, Jiuyang Zhang, Wenping Zhou, Zhihua Yao, Haiying Wang, Junfeng Chu, Shuna Yao, Shuang Zhao, Peipei Zhang, Yuanlin Xu, Qingxin Xia, Jie Ma, Bing Wei, Shujun Yang, Kangdong Liu, Yongjun Guo, Yanyan Liu

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Novel combined variants of WT1 and TET2 in a refractory and recurrent AML patient by Qiang Ma, Yixian Guo, Xiaoxi Lan, Guoxiang Wang, Wanling Sun

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Uncovering essential anesthetics-induced exosomal miRNAs related to hepatocellular carcinoma progression: a bioinformatic investigation by Ning Huang, Jie Fang, Fang Du, Jichuan Zhou, Yuxin Li, Xiaoguang Zhang

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Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy by Alina Schultze-Berndt, Alina Schultze-Berndt, Jirko Kühnisch, Jirko Kühnisch, Christopher Herbst, Christopher Herbst, Franziska Seidel, Franziska Seidel, Franziska Seidel, Franziska Seidel, Franziska Seidel, Nadya Al-, Nadya Al-, Nadya Al-, Josephine Dartsch, Simon Theisen, Simon Theisen, Simon Theisen, Walter Knirsch, Rolf Jenni, Matthias Greutmann, Erwin Oechslin, Erwin Oechslin, Felix Berger, Felix Berger, Felix Berger, Sabine Klaassen, Sabine Klaassen, Sabine Klaassen

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Identification of potential biomarkers related to glioma survival by gene expression profile analysis by Justin Bo-Kai Hsu, Tzu-Hao Chang, Gilbert Aaron Lee, Tzong-Yi Lee, Cheng-Yu Chen

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Whole-genome sequencing and genetic diversity of severe fever with thrombocytopenia syndrome virus using multiplex PCR-based nanopore sequencing, Republic of Korea. by Jingyeong Lee, Kyungmin Park, Jongwoo Kim, Seung-Ho Lee, Geum-Young Lee, Seungchan Cho, Heung-Chul Kim, Terry A Klein, Jeong-Ah Kim, Jeewan Choi, Juwan Park, Dong-Hyun Song, Se Hun Gu, Hyeongseok Yun, Jung-Eun Kim, Daesang Lee, Gyeung Haeng Hur, Seong Tae Jeong, Il-Ung Hwang, Won-Keun Kim, Jin-Won Song

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Comprehensive Assessments of RNA-seq by the SEQC Consortium: FDA-Led Efforts Advance Precision Medicine by Joshua Xu, Binsheng Gong, Leihong Wu, Shraddha Thakkar, Huixiao Hong, Weida Tong

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Deep learning‐based analysis of EGFR mutation prevalence in lung adenocarcinoma H&E whole slide images by Jun Hyeong Park, June Hyuck Lim, Seonhwa Kim, Chul‐Ho Kim, Jeong‐Seok Choi, Jun Hyeok Lim, Lucia Kim, Jae Won Chang, Dongil Park, Myung‐won Lee, Sup Kim, Il‐Seok Park, Seung Hoon Han, Eun Shin, Jin Roh, Jaesung Heo

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