Статті в журналах з теми "Genomics bioinformatics variant discovery sequence analysis"
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Ahmed, Zeeshan, Eduard Gibert Renart, and Saman Zeeshan. "Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping." PeerJ 9 (July 26, 2021): e11724. http://dx.doi.org/10.7717/peerj.11724.
Повний текст джерелаWiggans, G. R., D. J. Null, J. B. Cole, and 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, no. 2 (2016): 260. http://dx.doi.org/10.1071/rdv28n2ab256.
Повний текст джерелаSmith, 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, no. 23 (December 3, 2015): 946. http://dx.doi.org/10.1182/blood.v126.23.946.946.
Повний текст джерелаBao, Riyue, Lei Huang, Jorge Andrade, Wei Tan, Warren A. Kibbe, Hongmei Jiang, and Gang Feng. "Review of Current Methods, Applications, and Data Management for the Bioinformatics Analysis of Whole Exome Sequencing." Cancer Informatics 13s2 (January 2014): CIN.S13779. http://dx.doi.org/10.4137/cin.s13779.
Повний текст джерелаYang, Junmeng, Anna Liu, Isabella He, and Yongsheng Bai. "Bioinformatics Analysis Revealed Novel 3′UTR Variants Associated with Intellectual Disability." Genes 11, no. 9 (August 26, 2020): 998. http://dx.doi.org/10.3390/genes11090998.
Повний текст джерелаTremblay, Olivier, Zachary Thow, and 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, no. 12 (December 11, 2020): 792. http://dx.doi.org/10.3390/toxins12120792.
Повний текст джерелаAlsamman, Alsamman M., Shafik D. Ibrahim, and Aladdin Hamwieh. "KASPspoon: an in vitro and in silico PCR analysis tool for high-throughput SNP genotyping." Bioinformatics 35, no. 17 (January 8, 2019): 3187–90. http://dx.doi.org/10.1093/bioinformatics/btz004.
Повний текст джерелаBLAXTER, M., M. ASLETT, D. GUILIANO, J. DAUB, and THE FILARIAL GENOME PROJECT. "Parasitic helminth genomics." Parasitology 118, no. 7 (October 1999): 39–51. http://dx.doi.org/10.1017/s0031182099004060.
Повний текст джерелаKarabayev, Daniyar, Askhat Molkenov, Kaiyrgali Yerulanuly, Ilyas Kabimoldayev, Asset Daniyarov, Aigul Sharip, Ainur Seisenova, Zhaxybay Zhumadilov, and Ulykbek Kairov. "re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files." PeerJ 9 (May 3, 2021): e11333. http://dx.doi.org/10.7717/peerj.11333.
Повний текст джерелаKnight, 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, no. 21 (December 6, 2014): 3315. http://dx.doi.org/10.1182/blood.v124.21.3315.3315.
Повний текст джерелаSun, 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, no. 8 (August 12, 2022): 1303. http://dx.doi.org/10.3390/vaccines10081303.
Повний текст джерелаGobalan K and Ahamed John. "Applications of Bioinformatics in Genomics and Proteomics." JOURNAL OF ADVANCED APPLIED SCIENTIFIC RESEARCH 1, no. 3 (December 15, 2021): 29–42. http://dx.doi.org/10.46947/joaasr13201616.
Повний текст джерелаDourmishev, Lyubomir A., Assen L. Dourmishev, Diana Palmeri, Robert A. Schwartz, and David M. Lukac. "Molecular Genetics of Kaposi's Sarcoma-Associated Herpesvirus (Human Herpesvirus 8) Epidemiology and Pathogenesis." Microbiology and Molecular Biology Reviews 67, no. 2 (June 2003): 175–212. http://dx.doi.org/10.1128/mmbr.67.2.175-212.2003.
Повний текст джерелаBug, Dmitrii S., Ildar M. Barkhatov, Yana V. Gudozhnikova, Artem V. Tishkov, Igor B. Zhulin, and Natalia V. Petukhova. "Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis." Genes 11, no. 11 (October 22, 2020): 1242. http://dx.doi.org/10.3390/genes11111242.
Повний текст джерелаBortoluzzi, Stefania, Andrea Bisognin, Marta Biasiolo, Paola Guglielmelli, Flavia Biamonte, Ruggiero Norfo, Rossella Manfredini, and Alessandro M. Vannucchi. "Characterization and discovery of novel miRNAs and moRNAs in JAK2V617F-mutated SET2 cells." Blood 119, no. 13 (March 29, 2012): e120-e130. http://dx.doi.org/10.1182/blood-2011-07-368001.
Повний текст джерелаLin, Bichen, Yang Liu, Lanxin Su, Hangbo Liu, Hailan Feng, Miao Yu, and Haochen Liu. "A Novel CDH1 Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome." Diagnostics 12, no. 12 (November 24, 2022): 2936. http://dx.doi.org/10.3390/diagnostics12122936.
Повний текст джерелаYang, Andrian, Joshua Y. S. Tang, Michael Troup, and Joshua W. K. Ho. "Scavenger: A pipeline for recovery of unaligned reads utilising similarity with aligned reads." F1000Research 8 (October 13, 2022): 1587. http://dx.doi.org/10.12688/f1000research.19426.2.
Повний текст джерелаYang, Andrian, Joshua Y. S. Tang, Michael Troup, and Joshua W. K. Ho. "Scavenger: A pipeline for recovery of unaligned reads utilising similarity with aligned reads." F1000Research 8 (September 4, 2019): 1587. http://dx.doi.org/10.12688/f1000research.19426.1.
Повний текст джерелаFeau, Nicolas, David L. Joly, and 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, no. 12 (December 2007): 1127–35. http://dx.doi.org/10.1139/b07-102.
Повний текст джерелаLi, Juyi, Shan Sun, Xiufang Wang, Yarong Li, Hong Zhu, Hongmei Zhang, and Aiping Deng. "A Missense Mutation in IRS1 is Associated with the Development of Early-Onset Type 2 Diabetes." International Journal of Endocrinology 2020 (January 25, 2020): 1–8. http://dx.doi.org/10.1155/2020/9569126.
Повний текст джерелаAdawiah, Rabiatul, A. R. Shahril Firdaus, A. Norzihan, and 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, no. 2 (December 30, 2014): 48–52. http://dx.doi.org/10.54987/ajpb.v2i2.181.
Повний текст джерелаMaison, David P., Sean B. Cleveland, and Vivek R. Nerurkar. "Genomic analysis of SARS-CoV-2 variants of concern circulating in Hawai’i to facilitate public-health policies." PLOS ONE 17, no. 12 (December 1, 2022): e0278287. http://dx.doi.org/10.1371/journal.pone.0278287.
Повний текст джерелаHasan, Imtiaj, Marco Gerdol, Yuki Fujii, and Yasuhiro Ozeki. "Functional Characterization of OXYL, A SghC1qDC LacNAc-specific Lectin from The Crinoid Feather Star Anneissia Japonica." Marine Drugs 17, no. 2 (February 25, 2019): 136. http://dx.doi.org/10.3390/md17020136.
Повний текст джерелаTenedini, 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, no. 21 (November 15, 2013): 4099. http://dx.doi.org/10.1182/blood.v122.21.4099.4099.
Повний текст джерелаMelidis, Damianos P., Christian Landgraf, Gunnar Schmidt, Anja Schöner-Heinisch, Sandra von Hardenberg, Anke Lesinski-Schiedat, Wolfgang Nejdl, and Bernd Auber. "GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss." PLOS Computational Biology 18, no. 9 (September 21, 2022): e1009785. http://dx.doi.org/10.1371/journal.pcbi.1009785.
Повний текст джерелаTiong, Ing Soo, Clarissa Wilson, Satwica Yerneni, John Markham, Karen Dun, Ashish Bajel, Ella R. Thompson, David Alan Westerman, and Piers Blombery. "Mutational and Copy Number Profiling of Circulating Tumor DNA in Acute Myeloid Leukemia Using Targeted Next Generation Sequencing." Blood 136, Supplement 1 (November 5, 2020): 39–40. http://dx.doi.org/10.1182/blood-2020-138933.
Повний текст джерелаYang, Yunyun, Song Yang, Xiaolu Jiao, Juan Li, Miaomiao Zhu, Luya Wang, and Yanwen Qin. "ANGPTL3 Mutations in Unrelated Chinese Han Patients with Familial Hypercholesterolemia." Current Pharmaceutical Design 25, no. 2 (May 28, 2019): 190–200. http://dx.doi.org/10.2174/1381612825666190228000932.
Повний текст джерелаKönig, Simone, Wolfgang M. J. Obermann, and 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, no. 15 (August 5, 2022): 4976. http://dx.doi.org/10.3390/molecules27154976.
Повний текст джерелаMalek, Sami N., Denzil Bernard, Zhang Xiao Ying, Luke F. Peterson, Nisar A. Amin, Shaomeng Wang, Kamlai Saiya-Cork, Mark S. Kaminski, and Alfred Chang. "Analysis of 54 Follicular Lymphomas By Whole Exome Sequencing Identifies Multiple Novel Recurrently Mutated Pathways." Blood 126, no. 23 (December 3, 2015): 112. http://dx.doi.org/10.1182/blood.v126.23.112.112.
Повний текст джерелаTakei, 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 (November 29, 2018): 2254. http://dx.doi.org/10.1182/blood-2018-99-117941.
Повний текст джерелаCannon, 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, no. 12_Supplement (June 15, 2022): 1177. http://dx.doi.org/10.1158/1538-7445.am2022-1177.
Повний текст джерелаWohler, 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, no. 1 (August 18, 2021). http://dx.doi.org/10.1186/s13023-021-01916-z.
Повний текст джерелаChoi, Hyejin, Kwanghwan Lee, Donghyo Kim, Sanguk Kim, and Jae Hoon Lee. "The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta." Clinical Oral Investigations, March 3, 2022. http://dx.doi.org/10.1007/s00784-022-04413-0.
Повний текст джерелаSu, Zhiguang, Allison Cox, Yuan Shen, Ioannis Stylianou, and Beverly Paigen. "Abstract 1388: Hdlq14 Gene, A New Gene Regulating HDL Levels." Circulation 116, suppl_16 (October 16, 2007). http://dx.doi.org/10.1161/circ.116.suppl_16.ii_285-a.
Повний текст джерелаYun, Taedong, Helen Li, Pi-Chuan Chang, Michael F. Lin, Andrew Carroll, and Cory Y. McLean. "Accurate, scalable cohort variant calls using DeepVariant and GLnexus." Bioinformatics, January 5, 2021. http://dx.doi.org/10.1093/bioinformatics/btaa1081.
Повний текст джерелаKhorsand, Parsoa, Luca Denti, Paola Bonizzoni, Rayan Chikhi, and Fereydoun Hormozdiari. "Comparative genome analysis using sample-specific string detection in accurate long reads." Bioinformatics Advances 1, no. 1 (January 1, 2021). http://dx.doi.org/10.1093/bioadv/vbab005.
Повний текст джерелаFarkas, Carlos, Andy Mella, Maxime Turgeon, and 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 (June 21, 2021). http://dx.doi.org/10.3389/fmicb.2021.665041.
Повний текст джерелаSrivastava, Himangi, Drew Ferrell, and George V. Popescu. "NetSeekR: a network analysis pipeline for RNA-Seq time series data." BMC Bioinformatics 23, no. 1 (January 28, 2022). http://dx.doi.org/10.1186/s12859-021-04554-1.
Повний текст джерелаLo, 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, March 24, 2022. http://dx.doi.org/10.1093/bioinformatics/btac176.
Повний текст джерелаSserwadda, Ivan, and Gerald Mboowa. "rMAP: the Rapid Microbial Analysis Pipeline for ESKAPE bacterial group whole-genome sequence data." Microbial Genomics 7, no. 6 (June 10, 2021). http://dx.doi.org/10.1099/mgen.0.000583.
Повний текст джерелаCamiolo, Salvatore, Nicolás M. Suárez, Antonia Chalka, Cristina Venturini, Judith Breuer, and Andrew J. Davison. "GRACY: a tool for analysing human cytomegalovirus sequence data." Virus Evolution, December 30, 2020. http://dx.doi.org/10.1093/ve/veaa099.
Повний текст джерелаRana, Shashank, Preeti P, Vartika Singh, and Nikunj Bhardwaj. "Bioinformatics in Microbial Biotechnology: A Genomics and Proteomics Perspective." Innovations in Information and Communication Technology Series, February 28, 2021, 54–69. http://dx.doi.org/10.46532/978-81-950008-7-6_005.
Повний текст джерелаBradbury, P. J., T. Casstevens, S. E. Jensen, L. C. Johnson, Z. R. Miller, B. Monier, M. C. Romay, B. Song, and E. S. Buckler. "The Practical Haplotype Graph, a platform for storing and using pangenomes for imputation." Bioinformatics, June 24, 2022. http://dx.doi.org/10.1093/bioinformatics/btac410.
Повний текст джерелаBersell, Kevin, Tao Yang, and Dan Roden. "Abstract 96: A Unique Jervell Lange-Nielsen Syndrome Mutation Modeled in Induced Pluripotent Stem Cell Derived Cardiomyocytes." Circulation Research 117, suppl_1 (July 17, 2015). http://dx.doi.org/10.1161/res.117.suppl_1.96.
Повний текст джерелаPeng, Qi, Wenyan Qin, Siping Li, Meihua Huang, Chunbao Rao, and Xiaomei Lu. "A Novel IRF6 Frameshift Mutation in a Large Chinese Pedigree With Van der Woude syndrome." Cleft Palate-Craniofacial Journal, April 28, 2021, 105566562110109. http://dx.doi.org/10.1177/10556656211010909.
Повний текст джерелаChen, Jia, Yuting Ma, Hong Li, Zhuo Lin, Zhe Yang, Qin Zhang, Feng Wang, Yanping Lin, Zebing Ye, and 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, no. 1 (May 7, 2022). http://dx.doi.org/10.1186/s13023-022-02348-z.
Повний текст джерелаReid, Thomas, and Jordyn Bergsveinson. "How Do the Players Play? A Post-Genomic Analysis Paradigm to Understand Aquatic Ecosystem Processes." Frontiers in Molecular Biosciences 8 (May 7, 2021). http://dx.doi.org/10.3389/fmolb.2021.662888.
Повний текст джерелаChu, Chunfang, Lin Li, Shenghui Li, Qi Zhou, Ping Zheng, Yu-Di Zhang, Ai-hong Duan, Dan Lu, and Yu-Mei Wu. "Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome." Human Genomics 16, no. 1 (March 31, 2022). http://dx.doi.org/10.1186/s40246-022-00385-0.
Повний текст джерелаSamaha, Georgina, Claire M. Wade, Hamutal Mazrier, Catherine E. Grueber, and Bianca Haase. "Exploiting genomic synteny in Felidae: cross-species genome alignments and SNV discovery can aid conservation management." BMC Genomics 22, no. 1 (August 6, 2021). http://dx.doi.org/10.1186/s12864-021-07899-2.
Повний текст джерелаVasconcelos, Ana M., Maria Beatriz Carmo, Beatriz Ferreira, Inês Viegas, Margarida Gama-Carvalho, António Ferreira, and Andreia J. Amaral. "IsomiR_Window: a system for analyzing small-RNA-seq data in an integrative and user-friendly manner." BMC Bioinformatics 22, no. 1 (February 1, 2021). http://dx.doi.org/10.1186/s12859-021-03955-6.
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