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Inserm/CNRS UMR 1283/8199, Pasteur Institute of Lille, EGID, Lille, France
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. The observed AF of the MEN1 AMVs correlated well with the expected AFs (correlation coefficient R 2 = 0.95 y = 0.8255*x + 0.3102, Fig. 1A ). Using the UMI-specific bioinformatic process, false positive MEN1 variants were detected in only 3 out of
Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
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Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
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Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
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Valls J Iniesta R Moreno V . SNPStats: a web tool for the analysis of association studies . Bioinformatics 2006 22 1928 – 1929 . ( doi:10.1093/bioinformatics/btl268 ). 31 Barrett JC Fry B Maller J Daly MJ . Haploview: analysis and
Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Guangdong Geriatric Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China
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Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
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Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
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Reproductive Medicine Center, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China
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Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
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Division of Endocrinology, Department of Internal Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China
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Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai National Center for Translational Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
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combined analysis were performed using homemade scripts. Bioinformatics analysis Pathway analysis and gene ontology (GO) analysis were applied to explore the potential roles that the differentially expressed mRNAs play in a biological pathway or GO
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testing of the ANOS1 gene To detect single nucleotide variants (SNVs), Sanger sequencing or NGS was performed. MLPA or chromosomal microarray was conducted for the detection of CNVs. Some CNVs were identified by bioinformatic algorithms for CNV
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New Children’s Hospital, Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland
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bioinformatic analyses by using miRWalk 3.0 ( 10 , 11 ) and BLAT ( 12 ) and BLASTN ( 13 ) tools in Ensembl ( 14 ). Subjects and methods We studied a set of 19 KS and 5 normosmic cHH patients without previously found mutations in known cHH-causing genes
Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland
Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
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Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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Competence Centre on Health Technologies, Tartu, Estonia
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Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland
Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
School of Basic and Medical Biosciences, King’s College London, Guy’s Hospital, London, United Kingdom
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Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
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Department of Food and Environmental Sciences, University of Helsinki, Helsinki, Finland
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pathway, from the DAVID bioinformatics portal ( https://david.ncifcrf.gov/ ). Genes significantly upregulated at the second time point in obese subjects receiving vitamin D are marked with a red star. Discussion In the present study, we
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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.01.007 ) 23 Aryee MJ Jaffe AE Corrada-Bravo H Ladd-Acosta C Feinberg AP Hansen KD Irizarry RA . Minfi: a flexible and comprehensive Bioconductor package for the analysis of infinium DNA methylation microarrays . Bioinformatics 2014 30
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Universidade de São Paulo, Zebrafish Facility, São Paulo, São Paulo, Brazil
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, Illumina’s DRAGEN copy number variation pipeline was used, which detects alteration from three contiguous exons ( 11 ). CDH2 variant effects on splicing were evaluated by bioinformatic analysis and cDNA amplification The web site https
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analysis of specific genes, either based on a targeted enrichment or a targeted bioinformatics analysis of whole exome/genome data. The choice of genes might be leaned on https://panelapp.genomicsengland.co.uk/panels . 2 Decision on first-line test
Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China
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Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China
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Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China
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Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
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Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China
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Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
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Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China
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Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China
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Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China
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Xiamen Clinical Medical Center for Endocrine and Metabolic Diseases, Xiamen Diabetes Prevention and Treatment Center, Xiamen, China
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, we tried to uncover those key regulators or transcription factor analyses for determining the functional change of aHSCs in NASH by two bioinformatic methods. Several key upstream regulators related to the functional changes of HSCs in NASH were