Artículos de revistas sobre el tema "Genomics bioinformatics variant discovery sequence analysis"
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Ahmed, Zeeshan, Eduard Gibert Renart y Saman Zeeshan. "Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping". PeerJ 9 (26 de julio de 2021): e11724. http://dx.doi.org/10.7717/peerj.11724.
Texto completoWiggans, G. R., D. J. Null, J. B. Cole y H. D. Norman. "256 GENOMIC EVALUATION OF FERTILITY TRAITS AND DISCOVERY OF HAPLOTYPES THAT AFFECT FERTILITY OF US DAIRY CATTLE". Reproduction, Fertility and Development 28, n.º 2 (2016): 260. http://dx.doi.org/10.1071/rdv28n2ab256.
Texto completoSmith, Frances, David Brawand, Laura Steedman, Matthew Oakley, Christopher Wall, Peter Rushton, Margaret Allchurch et al. "A Comprehensive Next Generation Sequencing Gene Panel Focused on Unexplained Anemia". Blood 126, n.º 23 (3 de diciembre de 2015): 946. http://dx.doi.org/10.1182/blood.v126.23.946.946.
Texto completoBao, Riyue, Lei Huang, Jorge Andrade, Wei Tan, Warren A. Kibbe, Hongmei Jiang y Gang Feng. "Review of Current Methods, Applications, and Data Management for the Bioinformatics Analysis of Whole Exome Sequencing". Cancer Informatics 13s2 (enero de 2014): CIN.S13779. http://dx.doi.org/10.4137/cin.s13779.
Texto completoYang, Junmeng, Anna Liu, Isabella He y Yongsheng Bai. "Bioinformatics Analysis Revealed Novel 3′UTR Variants Associated with Intellectual Disability". Genes 11, n.º 9 (26 de agosto de 2020): 998. http://dx.doi.org/10.3390/genes11090998.
Texto completoTremblay, Olivier, Zachary Thow y A. Rod Merrill. "Several New Putative Bacterial ADP-Ribosyltransferase Toxins Are Revealed from In Silico Data Mining, Including the Novel Toxin Vorin, Encoded by the Fire Blight Pathogen Erwinia amylovora". Toxins 12, n.º 12 (11 de diciembre de 2020): 792. http://dx.doi.org/10.3390/toxins12120792.
Texto completoAlsamman, Alsamman M., Shafik D. Ibrahim y Aladdin Hamwieh. "KASPspoon: an in vitro and in silico PCR analysis tool for high-throughput SNP genotyping". Bioinformatics 35, n.º 17 (8 de enero de 2019): 3187–90. http://dx.doi.org/10.1093/bioinformatics/btz004.
Texto completoBLAXTER, M., M. ASLETT, D. GUILIANO, J. DAUB y THE FILARIAL GENOME PROJECT. "Parasitic helminth genomics". Parasitology 118, n.º 7 (octubre de 1999): 39–51. http://dx.doi.org/10.1017/s0031182099004060.
Texto completoKarabayev, Daniyar, Askhat Molkenov, Kaiyrgali Yerulanuly, Ilyas Kabimoldayev, Asset Daniyarov, Aigul Sharip, Ainur Seisenova, Zhaxybay Zhumadilov y Ulykbek Kairov. "re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files". PeerJ 9 (3 de mayo de 2021): e11333. http://dx.doi.org/10.7717/peerj.11333.
Texto completoKnight, Samantha JL, Ruth Clifford, Pauline Robbe, Sara DC Ramos, Adam Burns, Adele T. Timbs, Reem Alsolami et al. "The Identification of Further Minimal Regions of Overlap in Chronic Lymphocytic Leukemia Using High-Resolution SNP Arrays". Blood 124, n.º 21 (6 de diciembre de 2014): 3315. http://dx.doi.org/10.1182/blood.v124.21.3315.3315.
Texto completoSun, Yawei, Hongxing Ding, Feifan Zhao, Quanhui Yan, Yuwan Li, Xinni Niu, Weijun Zeng et al. "Genomic Characteristics and E Protein Bioinformatics Analysis of JEV Isolates from South China from 2011 to 2018". Vaccines 10, n.º 8 (12 de agosto de 2022): 1303. http://dx.doi.org/10.3390/vaccines10081303.
Texto completoGobalan K y Ahamed John. "Applications of Bioinformatics in Genomics and Proteomics". JOURNAL OF ADVANCED APPLIED SCIENTIFIC RESEARCH 1, n.º 3 (15 de diciembre de 2021): 29–42. http://dx.doi.org/10.46947/joaasr13201616.
Texto completoDourmishev, Lyubomir A., Assen L. Dourmishev, Diana Palmeri, Robert A. Schwartz y David M. Lukac. "Molecular Genetics of Kaposi's Sarcoma-Associated Herpesvirus (Human Herpesvirus 8) Epidemiology and Pathogenesis". Microbiology and Molecular Biology Reviews 67, n.º 2 (junio de 2003): 175–212. http://dx.doi.org/10.1128/mmbr.67.2.175-212.2003.
Texto completoBug, Dmitrii S., Ildar M. Barkhatov, Yana V. Gudozhnikova, Artem V. Tishkov, Igor B. Zhulin y Natalia V. Petukhova. "Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis". Genes 11, n.º 11 (22 de octubre de 2020): 1242. http://dx.doi.org/10.3390/genes11111242.
Texto completoBortoluzzi, Stefania, Andrea Bisognin, Marta Biasiolo, Paola Guglielmelli, Flavia Biamonte, Ruggiero Norfo, Rossella Manfredini y Alessandro M. Vannucchi. "Characterization and discovery of novel miRNAs and moRNAs in JAK2V617F-mutated SET2 cells". Blood 119, n.º 13 (29 de marzo de 2012): e120-e130. http://dx.doi.org/10.1182/blood-2011-07-368001.
Texto completoLin, Bichen, Yang Liu, Lanxin Su, Hangbo Liu, Hailan Feng, Miao Yu y Haochen Liu. "A Novel CDH1 Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome". Diagnostics 12, n.º 12 (24 de noviembre de 2022): 2936. http://dx.doi.org/10.3390/diagnostics12122936.
Texto completoYang, Andrian, Joshua Y. S. Tang, Michael Troup y Joshua W. K. Ho. "Scavenger: A pipeline for recovery of unaligned reads utilising similarity with aligned reads". F1000Research 8 (13 de octubre de 2022): 1587. http://dx.doi.org/10.12688/f1000research.19426.2.
Texto completoYang, Andrian, Joshua Y. S. Tang, Michael Troup y Joshua W. K. Ho. "Scavenger: A pipeline for recovery of unaligned reads utilising similarity with aligned reads". F1000Research 8 (4 de septiembre de 2019): 1587. http://dx.doi.org/10.12688/f1000research.19426.1.
Texto completoFeau, Nicolas, David L. Joly y Richard C. Hamelin. "Poplar leaf rusts: model pathogens for a model treeThis minireview is one of a selection of papers published in the Special Issue on Poplar Research in Canada." Canadian Journal of Botany 85, n.º 12 (diciembre de 2007): 1127–35. http://dx.doi.org/10.1139/b07-102.
Texto completoLi, Juyi, Shan Sun, Xiufang Wang, Yarong Li, Hong Zhu, Hongmei Zhang y Aiping Deng. "A Missense Mutation in IRS1 is Associated with the Development of Early-Onset Type 2 Diabetes". International Journal of Endocrinology 2020 (25 de enero de 2020): 1–8. http://dx.doi.org/10.1155/2020/9569126.
Texto completoAdawiah, Rabiatul, A. R. Shahril Firdaus, A. Norzihan y A. B. Umi Kalsom. "Mining of single nucleotide polymorphism (SNP) and simple sequence repeats (SSRs) from EST tropical fruits". Asian Journal of Plant Biology 2, n.º 2 (30 de diciembre de 2014): 48–52. http://dx.doi.org/10.54987/ajpb.v2i2.181.
Texto completoMaison, David P., Sean B. Cleveland y Vivek R. Nerurkar. "Genomic analysis of SARS-CoV-2 variants of concern circulating in Hawai’i to facilitate public-health policies". PLOS ONE 17, n.º 12 (1 de diciembre de 2022): e0278287. http://dx.doi.org/10.1371/journal.pone.0278287.
Texto completoHasan, Imtiaj, Marco Gerdol, Yuki Fujii y Yasuhiro Ozeki. "Functional Characterization of OXYL, A SghC1qDC LacNAc-specific Lectin from The Crinoid Feather Star Anneissia Japonica". Marine Drugs 17, n.º 2 (25 de febrero de 2019): 136. http://dx.doi.org/10.3390/md17020136.
Texto completoTenedini, Elena, Isabella Bernardis, Valentina Artusi, Lucia Artuso, Enrica Roncaglia, Paola Guglielmelli, Lisa Pieri et al. "Targeted Cancer Exome Sequencing Discovers Novel Recurrent Mutations In MPN". Blood 122, n.º 21 (15 de noviembre de 2013): 4099. http://dx.doi.org/10.1182/blood.v122.21.4099.4099.
Texto completoMelidis, Damianos P., Christian Landgraf, Gunnar Schmidt, Anja Schöner-Heinisch, Sandra von Hardenberg, Anke Lesinski-Schiedat, Wolfgang Nejdl y Bernd Auber. "GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss". PLOS Computational Biology 18, n.º 9 (21 de septiembre de 2022): e1009785. http://dx.doi.org/10.1371/journal.pcbi.1009785.
Texto completoTiong, Ing Soo, Clarissa Wilson, Satwica Yerneni, John Markham, Karen Dun, Ashish Bajel, Ella R. Thompson, David Alan Westerman y Piers Blombery. "Mutational and Copy Number Profiling of Circulating Tumor DNA in Acute Myeloid Leukemia Using Targeted Next Generation Sequencing". Blood 136, Supplement 1 (5 de noviembre de 2020): 39–40. http://dx.doi.org/10.1182/blood-2020-138933.
Texto completoYang, Yunyun, Song Yang, Xiaolu Jiao, Juan Li, Miaomiao Zhu, Luya Wang y Yanwen Qin. "ANGPTL3 Mutations in Unrelated Chinese Han Patients with Familial Hypercholesterolemia". Current Pharmaceutical Design 25, n.º 2 (28 de mayo de 2019): 190–200. http://dx.doi.org/10.2174/1381612825666190228000932.
Texto completoKönig, Simone, Wolfgang M. J. Obermann y Johannes A. Eble. "The Current State-of-the-Art Identification of Unknown Proteins Using Mass Spectrometry Exemplified on De Novo Sequencing of a Venom Protease from Bothrops moojeni". Molecules 27, n.º 15 (5 de agosto de 2022): 4976. http://dx.doi.org/10.3390/molecules27154976.
Texto completoMalek, Sami N., Denzil Bernard, Zhang Xiao Ying, Luke F. Peterson, Nisar A. Amin, Shaomeng Wang, Kamlai Saiya-Cork, Mark S. Kaminski y Alfred Chang. "Analysis of 54 Follicular Lymphomas By Whole Exome Sequencing Identifies Multiple Novel Recurrently Mutated Pathways". Blood 126, n.º 23 (3 de diciembre de 2015): 112. http://dx.doi.org/10.1182/blood.v126.23.112.112.
Texto completoTakei, Tomomi, Kazuaki Yokoyama, Nozomi Yusa, Sousuke Nakamura, Miho Ogawa, Kanya Kondoh, Masayuki Kobayashi et al. "Artificial Intelligence Guided Precision Medicine Approach to Hematological Disease". Blood 132, Supplement 1 (29 de noviembre de 2018): 2254. http://dx.doi.org/10.1182/blood-2018-99-117941.
Texto completoCannon, Matthew, Kori Kuzma, James Stevenson, Jiachen Liu, Colin O'Sullivan, Bimal P. Chaudhari, Matthew Brush et al. "Abstract 1177: Introduction of the GA4GH Variation Representation Specification (VRS) and supporting tools for discovery and exchange of clinical genomic and cytogenomic knowledge in cancers". Cancer Research 82, n.º 12_Supplement (15 de junio de 2022): 1177. http://dx.doi.org/10.1158/1538-7445.am2022-1177.
Texto completoWohler, Elizabeth, Renan Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey, Zeynep Coban-Akdemir et al. "PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data". Orphanet Journal of Rare Diseases 16, n.º 1 (18 de agosto de 2021). http://dx.doi.org/10.1186/s13023-021-01916-z.
Texto completoChoi, Hyejin, Kwanghwan Lee, Donghyo Kim, Sanguk Kim y Jae Hoon Lee. "The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta". Clinical Oral Investigations, 3 de marzo de 2022. http://dx.doi.org/10.1007/s00784-022-04413-0.
Texto completoSu, Zhiguang, Allison Cox, Yuan Shen, Ioannis Stylianou y Beverly Paigen. "Abstract 1388: Hdlq14 Gene, A New Gene Regulating HDL Levels". Circulation 116, suppl_16 (16 de octubre de 2007). http://dx.doi.org/10.1161/circ.116.suppl_16.ii_285-a.
Texto completoYun, Taedong, Helen Li, Pi-Chuan Chang, Michael F. Lin, Andrew Carroll y Cory Y. McLean. "Accurate, scalable cohort variant calls using DeepVariant and GLnexus". Bioinformatics, 5 de enero de 2021. http://dx.doi.org/10.1093/bioinformatics/btaa1081.
Texto completoKhorsand, Parsoa, Luca Denti, Paola Bonizzoni, Rayan Chikhi y Fereydoun Hormozdiari. "Comparative genome analysis using sample-specific string detection in accurate long reads". Bioinformatics Advances 1, n.º 1 (1 de enero de 2021). http://dx.doi.org/10.1093/bioadv/vbab005.
Texto completoFarkas, Carlos, Andy Mella, Maxime Turgeon y Jody J. Haigh. "A Novel SARS-CoV-2 Viral Sequence Bioinformatic Pipeline Has Found Genetic Evidence That the Viral 3′ Untranslated Region (UTR) Is Evolving and Generating Increased Viral Diversity". Frontiers in Microbiology 12 (21 de junio de 2021). http://dx.doi.org/10.3389/fmicb.2021.665041.
Texto completoSrivastava, Himangi, Drew Ferrell y George V. Popescu. "NetSeekR: a network analysis pipeline for RNA-Seq time series data". BMC Bioinformatics 23, n.º 1 (28 de enero de 2022). http://dx.doi.org/10.1186/s12859-021-04554-1.
Texto completoLo, Chien-Chi, Migun Shakya, Ryan Connor, Karen Davenport, Mark Flynn, Adán Myers y. Gutiérrez, Bin Hu et al. "EDGE COVID-19: a web platform to generate submission-ready genomes from SARS-CoV-2 sequencing efforts". Bioinformatics, 24 de marzo de 2022. http://dx.doi.org/10.1093/bioinformatics/btac176.
Texto completoSserwadda, Ivan y Gerald Mboowa. "rMAP: the Rapid Microbial Analysis Pipeline for ESKAPE bacterial group whole-genome sequence data". Microbial Genomics 7, n.º 6 (10 de junio de 2021). http://dx.doi.org/10.1099/mgen.0.000583.
Texto completoCamiolo, Salvatore, Nicolás M. Suárez, Antonia Chalka, Cristina Venturini, Judith Breuer y Andrew J. Davison. "GRACY: a tool for analysing human cytomegalovirus sequence data". Virus Evolution, 30 de diciembre de 2020. http://dx.doi.org/10.1093/ve/veaa099.
Texto completoRana, Shashank, Preeti P, Vartika Singh y Nikunj Bhardwaj. "Bioinformatics in Microbial Biotechnology: A Genomics and Proteomics Perspective". Innovations in Information and Communication Technology Series, 28 de febrero de 2021, 54–69. http://dx.doi.org/10.46532/978-81-950008-7-6_005.
Texto completoBradbury, P. J., T. Casstevens, S. E. Jensen, L. C. Johnson, Z. R. Miller, B. Monier, M. C. Romay, B. Song y E. S. Buckler. "The Practical Haplotype Graph, a platform for storing and using pangenomes for imputation". Bioinformatics, 24 de junio de 2022. http://dx.doi.org/10.1093/bioinformatics/btac410.
Texto completoBersell, Kevin, Tao Yang y Dan Roden. "Abstract 96: A Unique Jervell Lange-Nielsen Syndrome Mutation Modeled in Induced Pluripotent Stem Cell Derived Cardiomyocytes". Circulation Research 117, suppl_1 (17 de julio de 2015). http://dx.doi.org/10.1161/res.117.suppl_1.96.
Texto completoPeng, Qi, Wenyan Qin, Siping Li, Meihua Huang, Chunbao Rao y Xiaomei Lu. "A Novel IRF6 Frameshift Mutation in a Large Chinese Pedigree With Van der Woude syndrome". Cleft Palate-Craniofacial Journal, 28 de abril de 2021, 105566562110109. http://dx.doi.org/10.1177/10556656211010909.
Texto completoChen, Jia, Yuting Ma, Hong Li, Zhuo Lin, Zhe Yang, Qin Zhang, Feng Wang, Yanping Lin, Zebing Ye y Yubi Lin. "Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality". Orphanet Journal of Rare Diseases 17, n.º 1 (7 de mayo de 2022). http://dx.doi.org/10.1186/s13023-022-02348-z.
Texto completoReid, Thomas y Jordyn Bergsveinson. "How Do the Players Play? A Post-Genomic Analysis Paradigm to Understand Aquatic Ecosystem Processes". Frontiers in Molecular Biosciences 8 (7 de mayo de 2021). http://dx.doi.org/10.3389/fmolb.2021.662888.
Texto completoChu, Chunfang, Lin Li, Shenghui Li, Qi Zhou, Ping Zheng, Yu-Di Zhang, Ai-hong Duan, Dan Lu y Yu-Mei Wu. "Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome". Human Genomics 16, n.º 1 (31 de marzo de 2022). http://dx.doi.org/10.1186/s40246-022-00385-0.
Texto completoSamaha, Georgina, Claire M. Wade, Hamutal Mazrier, Catherine E. Grueber y Bianca Haase. "Exploiting genomic synteny in Felidae: cross-species genome alignments and SNV discovery can aid conservation management". BMC Genomics 22, n.º 1 (6 de agosto de 2021). http://dx.doi.org/10.1186/s12864-021-07899-2.
Texto completoVasconcelos, Ana M., Maria Beatriz Carmo, Beatriz Ferreira, Inês Viegas, Margarida Gama-Carvalho, António Ferreira y Andreia J. Amaral. "IsomiR_Window: a system for analyzing small-RNA-seq data in an integrative and user-friendly manner". BMC Bioinformatics 22, n.º 1 (1 de febrero de 2021). http://dx.doi.org/10.1186/s12859-021-03955-6.
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