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Material Type: Artigo
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Tackling the widespread and critical impact of batch effects in high-throughput dataIrizarry, Rafael A ; Leek, Jeffrey T ; Scharpf, Robert B ; Bravo, Héctor Corrada ; Simcha, David ; Langmead, Benjamin ; Johnson, W. Evan ; Geman, Donald ; Baggerly, KeithNature reviews. Genetics, 2010-10, Vol.11 (10), p.733-739 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Systematic Evaluation of Sanger Validation of Next-Generation Sequencing VariantsBeck, Tyler F ; Mullikin, James C ; Biesecker, Leslie GClinical chemistry (Baltimore, Md.), 2016-04, Vol.62 (4), p.647-654 [Periódico revisado por pares]England: American Association for Clinical Chemistry, IncTexto completo disponível |
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Material Type: Artigo
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Targeted Methylation Profiling of Single Laser-Capture Microdissected Post-Mortem Brain Cells by Adapted Limiting Dilution Bisulfite Pyrosequencing (LDBSP)Riemens, Renzo J M ; Kenis, Gunter ; Nolz, Jennifer ; Susano Chaves, Sonia C ; Duroux, Diane ; Pishva, Ehsan ; Mastroeni, Diego ; Van Steen, Kristel ; Haaf, Thomas ; van den Hove, Daniël L AInternational journal of molecular sciences, 2022-12, Vol.23 (24), p.15571 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Accounting for human polymorphisms predicted to affect protein functionNg, Pauline C ; Henikoff, StevenGenome research, 2002-03, Vol.12 (3), p.436-446 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
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Material Type: Artigo
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Quantitative cross-validation and content analysis of the 450k DNA methylation array from Illumina, IncRoessler, Jessica ; Ammerpohl, Ole ; Gutwein, Jana ; Hasemeier, Britta ; Anwar, Sumadi Lukman ; Kreipe, Hans ; Lehmann, UlrichBMC research notes, 2012-04, Vol.5 (1), p.210-210, Article 210 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Microbial resolution of whole genome shotgun and 16S amplicon metagenomic sequencing using publicly available NEON dataBrumfield, Kyle D ; Huq, Anwar ; Colwell, Rita R ; Olds, James L ; Leddy, Menu B Gyarmati, PeterPloS one, 2020-02, Vol.15 (2), p.e0228899 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testLionel, Anath C ; Costain, Gregory ; Monfared, Nasim ; Walker, Susan ; Reuter, Miriam S ; Hosseini, S Mohsen ; Thiruvahindrapuram, Bhooma ; Merico, Daniele ; Jobling, Rebekah ; Nalpathamkalam, Thomas ; Pellecchia, Giovanna ; Sung, Wilson W L ; Wang, Zhuozhi ; Bikangaga, Peter ; Boelman, Cyrus ; Carter, Melissa T ; Cordeiro, Dawn ; Cytrynbaum, Cheryl ; Dell, Sharon D ; Dhir, Priya ; Dowling, James J ; Heon, Elise ; Hewson, Stacy ; Hiraki, Linda ; Inbar-Feigenberg, Michal ; Klatt, Regan ; Kronick, Jonathan ; Laxer, Ronald M ; Licht, Christoph ; MacDonald, Heather ; Mercimek-Andrews, Saadet ; Mendoza-Londono, Roberto ; Piscione, Tino ; Schneider, Rayfel ; Schulze, Andreas ; Silverman, Earl ; Siriwardena, Komudi ; Snead, O Carter ; Sondheimer, Neal ; Sutherland, Joanne ; Vincent, Ajoy ; Wasserman, Jonathan D ; Weksberg, Rosanna ; Shuman, Cheryl ; Carew, Chris ; Szego, Michael J ; Hayeems, Robin Z ; Basran, Raveen ; Stavropoulos, Dimitri J ; Ray, Peter N ; Bowdin, Sarah ; Meyn, M Stephen ; Cohn, Ronald D ; Scherer, Stephen W ; Marshall, Christian RGenetics in medicine, 2018-04, Vol.20 (4), p.435-443 [Periódico revisado por pares]United States: Elsevier LimitedSem texto completo |
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Material Type: Artigo
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Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based methodAbicht, Angela ; Scharf, Florentine ; Kleinle, Stephanie ; Schön, Ulrike ; Holinski‐Feder, Elke ; Horvath, Rita ; Benet‐Pagès, Anna ; Diebold, IsabelMolecular genetics & genomic medicine, 2018-11, Vol.6 (6), p.1188-1198 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Comprehensive benchmarking and ensemble approaches for metagenomic classifiersMcIntyre, Alexa B R ; Ounit, Rachid ; Afshinnekoo, Ebrahim ; Prill, Robert J ; Hénaff, Elizabeth ; Alexander, Noah ; Minot, Samuel S ; Danko, David ; Foox, Jonathan ; Ahsanuddin, Sofia ; Tighe, Scott ; Hasan, Nur A ; Subramanian, Poorani ; Moffat, Kelly ; Levy, Shawn ; Lonardi, Stefano ; Greenfield, Nick ; Colwell, Rita R ; Rosen, Gail L ; Mason, Christopher EGenome Biology, 2017-09, Vol.18 (1), p.182-182, Article 182 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Measuring Genetic Differentiation from Pool-seq DataHivert, Valentin ; Leblois, Raphaël ; Petit, Eric J ; Gautier, Mathieu ; Vitalis, RenaudGenetics (Austin), 2018-09, Vol.210 (1), p.315-330 [Periódico revisado por pares]United States: Genetics Society of AmericaTexto completo disponível |