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Wyszukujesz frazę ""High-Throughput Nucleotide Sequencing"" wg kryterium: Temat


Tytuł:
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Autorzy:
Hijikata A; Laboratory of Computational Genomics, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0392, Japan.
Suyama M; Division of Bioinformatics, Medical Institute of Bioregulation, Kyushu University, Higashi-ku, Fukuoka 812-8582, Japan.
Kikugawa S; DNA Chip Research Inc., Minato-ku, Tokyo 105-0022, Japan.
Matoba R; DNA Chip Research Inc., Minato-ku, Tokyo 105-0022, Japan.
Naruto T; Clinical Research Institute, Kanagawa Children's Medical Center, Minami-ku, Yokohama, Kanagawa 232-0066, Japan.
Enomoto Y; Clinical Research Institute, Kanagawa Children's Medical Center, Minami-ku, Yokohama, Kanagawa 232-0066, Japan.
Kurosawa K; Clinical Research Institute, Kanagawa Children's Medical Center, Minami-ku, Yokohama, Kanagawa 232-0066, Japan.; Division of Medical Genetics, Kanagawa Children's Medical Center, Minami-ku, Yokohama, Kanagawa 232-0066, Japan.
Harada N; Department of Fundamental Cell Technology, Center for iPS Cell Research and Application (CiRA), Kyoto University, Sakyo-ku, Kyoto 606-8507, Japan.
Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo 157-8535, Japan.
Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo 157-8535, Japan.
Miyako K; Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan.
Takazawa M; Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan.
Sasai H; Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan.; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Gifu 501-1194, Japan.
Hosokawa J; Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan.
Itoga S; Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan.
Yamaguchi T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Nagano 390-8621, Japan.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Nagano 390-8621, Japan.; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Nagano 390-8621, Japan.
Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Nagano 390-8621, Japan.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Nagano 390-8621, Japan.; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Nagano 390-8621, Japan.
Matsubara K; Division of Collaborative Research, National Research Institute for Child Health and Development, Setagaya-ku, Tokyo 157-8535, Japan.; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya-ku, Tokyo 157-8535, Japan.
Kuroki Y; Department of Genome Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo 157-8535, Japan.; Division of Collaborative Research, National Research Institute for Child Health and Development, Setagaya-ku, Tokyo 157-8535, Japan.
Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya-ku, Tokyo 157-8535, Japan.
Adachi K; Organization for Research Initiative and Promotion, Tottori University, Yonago, Tottori 680-8550, Japan.
Nanba E; Organization for Research Initiative and Promotion, Tottori University, Yonago, Tottori 680-8550, Japan.
Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Kanagawa 236-0027, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Kanagawa 236-0027, Japan.
Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Kanagawa 236-0027, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Kanagawa 236-0027, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Kanagawa 236-0027, Japan.
Nishimura K; Xcoo, Inc., Bunkyo-ku, Tokyo 113-0033, Japan.
Ohara O; Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan.; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Nagano 390-8621, Japan.
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Źródło:
Nucleic acids research [Nucleic Acids Res] 2024 Jan 11; Vol. 52 (1), pp. 114-124.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*/genetics
High-Throughput Nucleotide Sequencing*/methods
High-Throughput Nucleotide Sequencing*/standards
Sequence Analysis, DNA*/methods
Sequence Analysis, DNA*/standards
Humans ; DNA
Czasopismo naukowe
Tytuł:
Evaluation of the diagnostic effectiveness of next generation sequencing in sepsis etiology: a systematic review and meta-analysis.
Autorzy:
Li D; Department of Infectious Diseases, Changzheng Hospital, Naval Medical University, Shanghai, China.
Yang Y; Department of Infectious Diseases, Changzheng Hospital, Naval Medical University, Shanghai, China.
Xie Y; Department of Infectious Diseases, Changzheng Hospital, Naval Medical University, Shanghai, China.
Wang J; Department of Infectious Diseases, Changzheng Hospital, Naval Medical University, Shanghai, China.
Xu W; Department of Infectious Diseases, Changzheng Hospital, Naval Medical University, Shanghai, China.
Wang J; Department of Infectious Diseases, Changzheng Hospital, Naval Medical University, Shanghai, China.
Hang X; Department of Infectious Diseases, Changzheng Hospital, Naval Medical University, Shanghai, China.
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Źródło:
Journal of infection in developing countries [J Infect Dev Ctries] 2023 Dec 31; Vol. 17 (12), pp. 1667-1673. Date of Electronic Publication: 2023 Dec 31.
Typ publikacji:
Meta-Analysis; Systematic Review; Journal Article; Review
MeSH Terms:
High-Throughput Nucleotide Sequencing*
Sepsis*/diagnosis
Humans ; Area Under Curve ; Blood Culture ; Bronchoalveolar Lavage Fluid
Czasopismo naukowe
Tytuł:
DuBA.flow─A Low-Cost, Long-Read Amplicon Sequencing Workflow for the Validation of Synthetic DNA Constructs.
Autorzy:
Ramírez Rojas AA; Max Planck Institute for Terrestrial Microbiology, Karl-von-Frisch-Str. 10, 35043 Marburg, Germany.
Brinkmann CK; Max Planck Institute for Terrestrial Microbiology, Karl-von-Frisch-Str. 10, 35043 Marburg, Germany.
Köbel TS; Max Planck Institute for Terrestrial Microbiology, Karl-von-Frisch-Str. 10, 35043 Marburg, Germany.
Schindler D; Max Planck Institute for Terrestrial Microbiology, Karl-von-Frisch-Str. 10, 35043 Marburg, Germany.; Center for Synthetic Microbiology, Philipps-University Marburg, Karl-von-Frisch-Str. 14, 35032 Marburg, Germany.
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Źródło:
ACS synthetic biology [ACS Synth Biol] 2024 Feb 16; Vol. 13 (2), pp. 457-465. Date of Electronic Publication: 2024 Jan 31.
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*/methods
DNA*/genetics
Workflow ; Sequence Analysis, DNA/methods ; Plasmids/genetics
Czasopismo naukowe
Tytuł:
Status check: next-generation sequencing for infectious-disease diagnostics.
Autorzy:
Rodino KG; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Simner PJ; Department of Pathology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
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Źródło:
The Journal of clinical investigation [J Clin Invest] 2024 Feb 15; Vol. 134 (4). Date of Electronic Publication: 2024 Feb 15.
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*
Metagenomics*
Whole Genome Sequencing ; Sensitivity and Specificity
Czasopismo naukowe
Tytuł:
Genome sequencing as a generic diagnostic strategy for rare disease.
Autorzy:
Schobers G; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Derks R; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
den Ouden A; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Swinkels H; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
van Reeuwijk J; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Bosgoed E; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Lugtenberg D; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Sun SM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Corominas Galbany J; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Weiss M; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Blok MJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Olde Keizer RACM; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Hofste T; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Hellebrekers D; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
de Leeuw N; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Kamsteeg EJ; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Ligtenberg MJL; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Bradley XZ; Illumina Inc., Cambridge, UK.
Peden J; Illumina Inc., Cambridge, UK.
Gutierrez A; Illumina Inc., Cambridge, UK.
Pullen A; Illumina Inc., Cambridge, UK.
Payne T; Illumina Inc., Cambridge, UK.
Gilissen C; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Brunner HG; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Nelen M; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.
Yntema HG; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands.; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands.
Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, Netherlands. .; Research Institute for Medical Innovation, Radboudumc, Nijmegen, Netherlands. .
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Źródło:
Genome medicine [Genome Med] 2024 Feb 14; Vol. 16 (1), pp. 32. Date of Electronic Publication: 2024 Feb 14.
Typ publikacji:
Journal Article
MeSH Terms:
Rare Diseases*/diagnosis
Rare Diseases*/genetics
High-Throughput Nucleotide Sequencing*
Humans ; Whole Genome Sequencing ; Base Sequence ; Chromosome Mapping ; Exome Sequencing
Czasopismo naukowe
Tytuł:
A training program for improving the capacity of infection high-throughput sequencing and diagnosis in China.
Autorzy:
Zhang D; Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.; Key Laboratory of Pathogen Infection Prevention and Control (Peking Union Medical College), Ministry of Education, Beijing, China.
Cheng Y; Zhongshan Hospital, Fudan University, 180 Fenglin Rd, 200032, Shanghai, China.
Ji Y; Zhongshan Hospital, Fudan University, 180 Fenglin Rd, 200032, Shanghai, China.
Miao Q; Zhongshan Hospital, Fudan University, 180 Fenglin Rd, 200032, Shanghai, China.
Chen B; Precision Medicine Center, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University, 610041, Chengdu, China.
Wang J; Precision Medicine Center, Precision Medicine Key Laboratory of Sichuan Province, West China Hospital, Sichuan University, 610041, Chengdu, China.
Wu G; Center of Clinical Laboratory Medicine, Zhongda Hospital, Southeast University, 210009, Nanjing, Jiangsu, China.
Yuan C; Center of Clinical Laboratory Medicine, Zhongda Hospital, Southeast University, 210009, Nanjing, Jiangsu, China.
Zheng G; Genetic Testing Lab, The Second Clinical College, Guangzhou University of Chinese Medicine, Guangzhou, China.
Liu H; Genetic Testing Lab, The Second Clinical College, Guangzhou University of Chinese Medicine, Guangzhou, China.
Qiu X; Genetic Testing Lab, The Second Clinical College, Guangzhou University of Chinese Medicine, Guangzhou, China.
Gong J; Department of Clinical Laboratory, Wuhan Center for Clinical Laboratory, Wuhan, Hubei, China.
Ba H; Department of Clinical Laboratory, Wuhan Center for Clinical Laboratory, Wuhan, Hubei, China.
Pan L; Department of Clinical Laboratory, Wuhan Center for Clinical Laboratory, Wuhan, Hubei, China.
Ma X; Department of Laboratory Medicine, Division of Life Sciences and Medicine, The First Affiliated Hospital of USTC, University of Science and Technology of China, 230000, Hefei, Anhui, China.
Qi Y; Department of Laboratory Medicine, Division of Life Sciences and Medicine, The First Affiliated Hospital of USTC, University of Science and Technology of China, 230000, Hefei, Anhui, China.
Shi Y; Department of Laboratory Medicine, Division of Life Sciences and Medicine, The First Affiliated Hospital of USTC, University of Science and Technology of China, 230000, Hefei, Anhui, China.
Zhang Q; Beijing life oasis public service center, Beijing, China.
Li D; BGI Genomics, 518083, Shenzhen, China.
Xu Y; Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China. .; Key Laboratory of Pathogen Infection Prevention and Control (Peking Union Medical College), Ministry of Education, Beijing, China. .
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Źródło:
BMC medical education [BMC Med Educ] 2024 Feb 14; Vol. 24 (1), pp. 142. Date of Electronic Publication: 2024 Feb 14.
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*
COVID-19*
Humans ; China ; Disease Outbreaks ; Hospitalization ; Sensitivity and Specificity ; COVID-19 Testing
Czasopismo naukowe
Tytuł:
The application of high-throughput sequencing technology in corneal diseases.
Autorzy:
Zhao JY; The Second Clinical Medical College of Jilin University, Changchun, 130012, Jilin, China.
He YX; The Eye Center, The Second Hospital of Jilin University, Changchun, 130041, Jilin, China.
Wu ML; The Eye Center, The Second Hospital of Jilin University, Changchun, 130041, Jilin, China.
Wang RQ; The Eye Center, The Second Hospital of Jilin University, Changchun, 130041, Jilin, China. .
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Źródło:
International ophthalmology [Int Ophthalmol] 2024 Feb 10; Vol. 44 (1), pp. 53. Date of Electronic Publication: 2024 Feb 10.
Typ publikacji:
Journal Article; Review
MeSH Terms:
High-Throughput Nucleotide Sequencing*
Humans ; Mutation ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł:
General Principles and Limitations for Detection of RNA Modifications by Sequencing.
Autorzy:
Motorin Y; Université de Lorraine, UMR7365 IMoPA CNRS-UL and UAR2008/US40 IBSLor CNRS-Inserm, Biopole UL, Nancy F54000, France.
Helm M; Institute of Pharmaceutical and Biomedical Sciences, Johannes Gutenberg-University Mainz, Staudingerweg 5, 55128 Mainz, Germany.
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Źródło:
Accounts of chemical research [Acc Chem Res] 2024 Feb 06; Vol. 57 (3), pp. 275-288. Date of Electronic Publication: 2023 Dec 08.
Typ publikacji:
Journal Article
MeSH Terms:
RNA*/genetics
High-Throughput Nucleotide Sequencing*/methods
DNA, Complementary/genetics ; Reproducibility of Results ; RNA, Messenger/genetics
Czasopismo naukowe
Tytuł:
Characterization of the novel HLA-DQB1*03:516 allele by next-generation sequencing.
Autorzy:
Bian C; Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, Yunnan, China.
Wang ZH; Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, Yunnan, China.
Cheng ZA; Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, Yunnan, China.
Sun H; Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, Yunnan, China.
Yang ZQ; Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, Yunnan, China.; State Key Laboratory of Respiratory Health and Multimorbidity, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
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Źródło:
HLA [HLA] 2024 Feb; Vol. 103 (2), pp. e15402.
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*
Humans ; Alleles ; HLA-DQ beta-Chains/genetics ; Exons/genetics
Czasopismo naukowe
Tytuł:
Next-generation sequencing identifies four novel HLA class I alleles with nucleotide substitutions in the 3' UTR.
Autorzy:
Niño Ramírez JE; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca, Salamanca, Spain.; Universidad de Salamanca, Salamanca, Spain.
Gil-Etayo FJ; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca, Salamanca, Spain.
Jiménez Hernaz I; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.
Arroyo-Sánchez D; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.
Tejeda Velarde A; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca, Salamanca, Spain.
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Źródło:
HLA [HLA] 2024 Feb; Vol. 103 (2), pp. e15371.
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*
Nucleotides*
Humans ; 3' Untranslated Regions ; Alleles
Czasopismo naukowe
Tytuł:
Identification of the novel HLA-DRB1*14:253 allele by next-generation sequencing.
Autorzy:
Bouthemy C; CHU Toulouse, Laboratoire d'Immunologie, Institut fédératif de biologie, Hôpital Purpan, Toulouse, France.
Cargou M; CHU de Bordeaux, Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, Bordeaux, France.
Fort M; CHU Toulouse, Laboratoire d'Immunologie, Institut fédératif de biologie, Hôpital Purpan, Toulouse, France.
Congy-Jolivet N; CHU Toulouse, Laboratoire d'Immunologie, Institut fédératif de biologie, Hôpital Purpan, Toulouse, France.
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Źródło:
HLA [HLA] 2024 Feb; Vol. 103 (2), pp. e15389.
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*
Humans ; HLA-DRB1 Chains/genetics ; Alleles ; Codon ; Exons/genetics
Czasopismo naukowe
Tytuł:
Characterization of the novel HLA-B*57:169 allele by next generation sequencing.
Autorzy:
Gravante C; Department of Pathology and Laboratory Medicine, Temple University Hospital, Philadelphia, Pennsylvania, United States.
Berka Y; Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Alberta, Canada.
Peters L; Department of Pathology and Laboratory Medicine, Temple University Hospital, Philadelphia, Pennsylvania, United States.
Mancini S; Department of Pathology and Laboratory Medicine, Temple University Hospital, Philadelphia, Pennsylvania, United States.
Liacini A; Lewis Katz School of Medicine, Temple University Hospital, Philadelphia, Pennsylvania, United States.
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Źródło:
HLA [HLA] 2024 Feb; Vol. 103 (2), pp. e15344.
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*
HLA-B Antigens*/genetics
Humans ; Alleles ; Exons/genetics
Czasopismo naukowe
Tytuł:
Characterization of seven novel HLA-DPA1*01:03:01 non-coding variants by next-generation sequencing.
Autorzy:
Gil-Etayo FJ; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain.
Niño Ramírez JE; Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain.; Universidad de Salamanca (USAL), Salamanca, Spain.
Vicente Parra A; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.
Arroyo-Sánchez D; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.
Tejeda Velarde A; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain.
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Źródło:
HLA [HLA] 2024 Feb; Vol. 103 (2), pp. e15385.
Typ publikacji:
Journal Article
MeSH Terms:
HLA-DP alpha-Chains*/genetics
High-Throughput Nucleotide Sequencing*
Humans ; Alleles ; Histocompatibility Testing
Czasopismo naukowe
Tytuł:
HLA-DPA1*02:01:25, a novel allele with a synonymous transition in exon 2 identified by next-generation sequencing.
Autorzy:
Niño Ramírez JE; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain.; Universidad de Salamanca (USAL), Salamanca, Spain.
Gil-Etayo FJ; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain.
Terradillos Sánchez P; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.
Arroyo-Sánchez D; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.
Tejeda Velarde A; Laboratorio de HLA-Biología Molecular, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain.
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Źródło:
HLA [HLA] 2024 Feb; Vol. 103 (2), pp. e15366.
Typ publikacji:
Journal Article
MeSH Terms:
HLA-DP alpha-Chains*/genetics
High-Throughput Nucleotide Sequencing*
Humans ; Alleles ; Exons/genetics
Czasopismo naukowe
Tytuł:
Next-generation sequencing identifies two novel HLA-DPB1 alleles: HLA-DPB1*1069:01 and DPB1*1072:01.
Autorzy:
Misra MK; Department of Pathology, The University of Chicago Medicine, Chicago, Illinois, USA.
Brown NK; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Marino SG; Department of Pathology, The University of Chicago Medicine, Chicago, Illinois, USA.
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Źródło:
HLA [HLA] 2024 Feb; Vol. 103 (2), pp. e15368.
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*
Nucleotides*
Humans ; Alleles ; HLA-DP beta-Chains/genetics
Czasopismo naukowe
Tytuł:
The recognition of three novel HLA-A alleles: HLA-A*02:1041Q, -A*02:1042, and -A*02:1043.
Autorzy:
Gusev O; Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, Kazan, Russian Federation.
Ananeva A; Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, Kazan, Russian Federation.
Andryushkina AV; National Bone Marrow Donors Registry named after Vasya Perevoshchikov, Moscow, Russian Federation.
Shagimardanova EI; Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, Kazan, Russian Federation.; Loginov Moscow Clinical Scientific Center, Moscow, Russian Federation.
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Źródło:
HLA [HLA] 2024 Feb; Vol. 103 (2), pp. e15352.
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*
HLA-A Antigens*/genetics
Humans ; Alleles
Czasopismo naukowe
Tytuł:
Next generation sequencing identifies two novel HLA alleles, HLA-B*51:395 and HLA-DQB1*06:478.
Autorzy:
Loginova M; Federal State Budget Research Institution: Kirov Hematology and Blood Transfusion Research Institute under the Federal Medicine and Biology Agency, Kirov, Russia.; Federal State Budget Educational Institution of Higher Professional Education: Vyatka State University, Kirov, Russia.
Druzhinina S; Federal State Budget Research Institution: Kirov Hematology and Blood Transfusion Research Institute under the Federal Medicine and Biology Agency, Kirov, Russia.
Paramonov I; Federal State Budget Research Institution: Kirov Hematology and Blood Transfusion Research Institute under the Federal Medicine and Biology Agency, Kirov, Russia.
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Źródło:
HLA [HLA] 2024 Feb; Vol. 103 (2), pp. e15369.
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*
HLA-B Antigens*/genetics
Humans ; Alleles ; HLA-DQ beta-Chains/genetics
Czasopismo naukowe
Tytuł:
ClusTrast: a short read de novo transcript isoform assembler guided by clustered contigs.
Autorzy:
Westrin KJ; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, 171 65, Solna, Sweden.
Kretzschmar WW; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, 171 65, Solna, Sweden.; Department of Medicine Huddinge, Center for Hematology and Regenerative Medicine (HERM), Karolinska Institute, 141 52, Flemingsberg, Sweden.
Emanuelsson O; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, 171 65, Solna, Sweden. .
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2024 Feb 01; Vol. 25 (1), pp. 54. Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Transcriptome*
High-Throughput Nucleotide Sequencing*/methods
Sequence Analysis ; RNA-Seq ; Sequence Analysis, RNA ; Protein Isoforms/genetics
Czasopismo naukowe
Tytuł:
TKSM: highly modular, user-customizable, and scalable transcriptomic sequencing long-read simulator.
Autorzy:
Karaoğlanoğlu F; Computing Science Department, Simon Fraser University, Burnaby, BC V5A 1S6, Canada.
Orabi B; Department of Computer Science, the University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
Flannigan R; Department of Urologic Sciences, the University of British Columbia, Vancouver, BC V5Z 1M9, Canada.; Vancouver Prostate Centre, Vancouver, BC V6H 3Z6, Canada.
Chauve C; Department of Mathematics, Simon Fraser University, Burnaby, BC V5A 1S6, Canada.
Hach F; Department of Computer Science, the University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Department of Urologic Sciences, the University of British Columbia, Vancouver, BC V5Z 1M9, Canada.; Vancouver Prostate Centre, Vancouver, BC V6H 3Z6, Canada.
Pokaż więcej
Źródło:
Bioinformatics (Oxford, England) [Bioinformatics] 2024 Feb 01; Vol. 40 (2).
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*/methods
Software*
Computer Simulation ; RNA ; Gene Expression Profiling
Czasopismo naukowe
Tytuł:
HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing.
Autorzy:
Holt JM; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States.
Saunders CT; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States.
Rowell WJ; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States.
Kronenberg Z; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States.
Wenger AM; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States.
Eberle M; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States.
Pokaż więcej
Źródło:
Bioinformatics (Oxford, England) [Bioinformatics] 2024 Feb 01; Vol. 40 (2).
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing*
Genome, Human*
Humans ; Sequence Analysis, DNA ; Algorithms ; Haplotypes ; Tandem Repeat Sequences
Czasopismo naukowe

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