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


Tytuł:
High-throughput DNA extraction and cost-effective miniaturized metagenome and amplicon library preparation of soil samples for DNA sequencing.
Autorzy:
Jensen TBN; Center for Microbial Communities, Dept. of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.
Dall SM; Center for Microbial Communities, Dept. of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.
Knutsson S; Center for Microbial Communities, Dept. of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.
Karst SM; Center for Microbial Communities, Dept. of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.
Albertsen M; Center for Microbial Communities, Dept. of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.
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Źródło:
PloS one [PLoS One] 2024 Apr 04; Vol. 19 (4), pp. e0301446. Date of Electronic Publication: 2024 Apr 04 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Metagenome*
High-Throughput Nucleotide Sequencing*/methods
Cost-Benefit Analysis ; Sequence Analysis, DNA/methods ; DNA ; Soil ; Metagenomics/methods
Czasopismo naukowe
Tytuł:
High-throughput sequencing of insect specimens with sub-optimal DNA preservation using a practical, plate-based Illumina-compatible Tn5 transposase library preparation method.
Autorzy:
Cobb L; Centre for Ecological and Evolutionary Synthesis (CEES), Department of Biosciences, University of Oslo, Oslo, Norway.
de Muinck E; Centre for Ecological and Evolutionary Synthesis (CEES), Department of Biosciences, University of Oslo, Oslo, Norway.
Kollias S; Centre for Ecological and Evolutionary Synthesis (CEES), Department of Biosciences, University of Oslo, Oslo, Norway.
Skage M; Centre for Ecological and Evolutionary Synthesis (CEES), Department of Biosciences, University of Oslo, Oslo, Norway.
Gilfillan GD; Department of Medical Genetics, Oslo University Hospital Ullevål and University of Oslo, Oslo, Norway.
Sydenham MAK; Norwegian Institute for Nature Research (NINA), Oslo, Norway.
Qiao SW; Department of Immunology, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Star B; Centre for Ecological and Evolutionary Synthesis (CEES), Department of Biosciences, University of Oslo, Oslo, Norway.
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Źródło:
PloS one [PLoS One] 2024 Mar 22; Vol. 19 (3), pp. e0300865. Date of Electronic Publication: 2024 Mar 22 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
DNA*/genetics
High-Throughput Nucleotide Sequencing*/methods
Transposases*
Gene Library ; Ethanol ; Sequence Analysis, DNA/methods
Czasopismo naukowe
Tytuł:
The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling.
Autorzy:
Paterson AD; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Divisions of Epidemiology and Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
Seok SC; Mathematical Medicine LLC, Chicago, IL, United States of America.
Vieland VJ; Mathematical Medicine LLC, Chicago, IL, United States of America.; Departments of Pediatrics and Biostatistics (Emerita), The Ohio State University, Columbus, OH, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Sep 21; Vol. 18 (9), pp. e0290336. Date of Electronic Publication: 2023 Sep 21 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Counseling*
High-Throughput Nucleotide Sequencing*
Penetrance ; Virulence ; Lod Score
Czasopismo naukowe
Tytuł:
A simple, single-tube overlapping amplicon-targeted Illumina sequencing assay.
Autorzy:
Limberis JD; Division of Experimental Medicine, University of California, San Francisco, San Francisco, California, United States of America.
Nalyvayko A; Division of Experimental Medicine, University of California, San Francisco, San Francisco, California, United States of America.
Ernst JD; Division of Experimental Medicine, University of California, San Francisco, San Francisco, California, United States of America.
Metcalfe JZ; Division of Pulmonary and Critical Care Medicine, Zuckerberg San Francisco General Hospital and Trauma Centre, University of California, San Francisco, San Francisco, California, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Sep 14; Vol. 18 (9), pp. e0288687. Date of Electronic Publication: 2023 Sep 14 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
High-Throughput Nucleotide Sequencing*
Biological Assay*
Mutation ; Polymerase Chain Reaction
Czasopismo naukowe
Tytuł:
Investigation of the vaginal microbiota of dairy cows through genetic sequencing of short (Illumina) and long (PacBio) reads and associations with gestational status.
Autorzy:
Souza AK; National Institute of Science and Technology for Dairy Production Chain (INCT-LEITE), Universidade Estadual de Londrina, Londrina, Paraná, Brazil.; Laboratory of Biotechnology of Animal Reproduction, Department of Veterinary Clinics, Center for Agricultural Sciences, Universidade Estadual de Londrina, Londrina, Paraná, Brazil.
Zangirolamo AF; National Institute of Science and Technology for Dairy Production Chain (INCT-LEITE), Universidade Estadual de Londrina, Londrina, Paraná, Brazil.; Laboratory of Biotechnology of Animal Reproduction, Department of Veterinary Clinics, Center for Agricultural Sciences, Universidade Estadual de Londrina, Londrina, Paraná, Brazil.
Droher RG; Laboratory of Biotechnology of Animal Reproduction, Department of Veterinary Clinics, Center for Agricultural Sciences, Universidade Estadual de Londrina, Londrina, Paraná, Brazil.
Bonato FGC; Laboratory of Biotechnology of Animal Reproduction, Department of Veterinary Clinics, Center for Agricultural Sciences, Universidade Estadual de Londrina, Londrina, Paraná, Brazil.
Alfieri AA; National Institute of Science and Technology for Dairy Production Chain (INCT-LEITE), Universidade Estadual de Londrina, Londrina, Paraná, Brazil.
Carvalho da Costa M; Département de Biomédecine Vétérinaire, University of Montreal, Montreal, Canada.
Seneda MM; National Institute of Science and Technology for Dairy Production Chain (INCT-LEITE), Universidade Estadual de Londrina, Londrina, Paraná, Brazil.; Laboratory of Biotechnology of Animal Reproduction, Department of Veterinary Clinics, Center for Agricultural Sciences, Universidade Estadual de Londrina, Londrina, Paraná, Brazil.
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Źródło:
PloS one [PLoS One] 2023 Aug 23; Vol. 18 (8), pp. e0290026. Date of Electronic Publication: 2023 Aug 23 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
High-Throughput Nucleotide Sequencing*
Microbiota*/genetics
Female ; Pregnancy ; Animals ; Cattle ; RNA, Ribosomal, 16S/genetics ; Databases, Factual ; Fertility
Czasopismo naukowe
Tytuł:
A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples.
Autorzy:
Oketch JW; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.
Wain LV; Department of Population Health Sciences, University of Leicester, Leicester, United Kingdom.; National Institute for Health Research, Leicester Respiratory Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom.
Hollox EJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.
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Źródło:
PloS one [PLoS One] 2024 Apr 01; Vol. 19 (4), pp. e0300545. Date of Electronic Publication: 2024 Apr 01 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Genome, Human*
Microsatellite Repeats*/genetics
Humans ; Software ; Genomics ; Genotype ; High-Throughput Nucleotide Sequencing
Czasopismo naukowe
Tytuł:
Key anti-freeze genes and pathways of Lanzhou lily (Lilium davidii, var. unicolor) during the seedling stage.
Autorzy:
Tian X; Department of Ecological Environment and Engineering, Yangling Vocational and Technical College, Shaanxi, Yangling, China.
Li J; Gansu Provincial Transportation Planning Survey and Design Institute Limited Liability Company, Lanzhou, Gansu Province, China.
Chen S; Department of Ecological Environment and Engineering, Yangling Vocational and Technical College, Shaanxi, Yangling, China.
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Źródło:
PloS one [PLoS One] 2024 Mar 21; Vol. 19 (3), pp. e0299259. Date of Electronic Publication: 2024 Mar 21 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Lilium*
Seedlings/genetics ; Freezing ; Transcriptome ; High-Throughput Nucleotide Sequencing ; Gene Expression Regulation, Plant ; Gene Expression Profiling
Czasopismo naukowe
Tytuł:
The development of non-destructive sampling methods of parchment skins for genetic species identification.
Autorzy:
Scheible M; Department of Population Health and Pathobiology, College of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina, United States of America.
Stinson TL; Department of English, College of Humanities and Social Sciences, North Carolina State University, Raleigh, North Carolina, United States of America.
Breen M; Department of Molecular Biomedical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina, United States of America.
Callahan BJ; Department of Population Health and Pathobiology, College of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina, United States of America.
Thomas R; Department of Molecular Biomedical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina, United States of America.
Meiklejohn KA; Department of Population Health and Pathobiology, College of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Mar 20; Vol. 19 (3), pp. e0299524. Date of Electronic Publication: 2024 Mar 20 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
DNA*
Genome, Mitochondrial*
Animals ; High-Throughput Nucleotide Sequencing ; Skin ; Specimen Handling
Czasopismo naukowe
Tytuł:
Early assessment of fungal and oomycete pathogens in greenhouse irrigation water using Oxford nanopore amplicon sequencing.
Autorzy:
Kudjordjie EN; Department of Agroecology, Faculty of Technical Sciences, Aarhus University, Slagelse, Denmark.
Schmidt-Høier AS; Teknologisk Institut Gregersensvej, Taastrup, Denmark.
Brøndum MB; Teknologisk Institut Gregersensvej, Taastrup, Denmark.
Johnsen MG; Teknologisk Institut Gregersensvej, Taastrup, Denmark.
Nicolaisen M; Department of Agroecology, Faculty of Technical Sciences, Aarhus University, Slagelse, Denmark.
Vestergård M; Department of Agroecology, Faculty of Technical Sciences, Aarhus University, Slagelse, Denmark.
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Źródło:
PloS one [PLoS One] 2024 Mar 15; Vol. 19 (3), pp. e0300381. Date of Electronic Publication: 2024 Mar 15 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Nanopores*
Oomycetes*/genetics
Reproducibility of Results ; Fungi/genetics ; Sequence Analysis, DNA ; DNA ; High-Throughput Nucleotide Sequencing/methods
Czasopismo naukowe
Tytuł:
HaplotagLR: An efficient and configurable utility for haplotagging long reads.
Autorzy:
Holmes MJ; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.
Mahjour B; Department of Medicinal Chemistry, University of Michigan, Ann Arbor, Michigan, United States of America.
Castro CP; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.
Farnum GA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.
Diehl AG; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.
Boyle AP; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Mar 13; Vol. 19 (3), pp. e0298688. Date of Electronic Publication: 2024 Mar 13 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Genomics*/methods
Genome, Human*
Humans ; Sequence Analysis, DNA/methods ; Haplotypes/genetics ; High-Throughput Nucleotide Sequencing/methods ; Algorithms
Czasopismo naukowe
Tytuł:
A targeted amplicon next-generation sequencing assay for tryptase genotyping to support personalized therapy in mast cell-related disorders.
Autorzy:
Li O; Genentech Research and Early Development, Genentech, Inc, South San Francisco, CA, United States of America.
Hackney JA; Genentech Research and Early Development, Genentech, Inc, South San Francisco, CA, United States of America.
Choy DF; Genentech Research and Early Development, Genentech, Inc, South San Francisco, CA, United States of America.
Chang D; Genentech Research and Early Development, Genentech, Inc, South San Francisco, CA, United States of America.
Nersesian R; Genentech Research and Early Development, Genentech, Inc, South San Francisco, CA, United States of America.
Staton TL; Genentech Research and Early Development, Genentech, Inc, South San Francisco, CA, United States of America.
Cai F; Genentech Research and Early Development, Genentech, Inc, South San Francisco, CA, United States of America.
Toghi Eshghi S; Genentech Research and Early Development, Genentech, Inc, South San Francisco, CA, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Feb 09; Vol. 19 (2), pp. e0291947. Date of Electronic Publication: 2024 Feb 09 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Mast Cells*/metabolism
Asthma*/drug therapy
Asthma*/genetics
Humans ; Tryptases/genetics ; Tryptases/metabolism ; Genotype ; High-Throughput Nucleotide Sequencing
Czasopismo naukowe
Tytuł:
Extraction and selection of high-molecular-weight DNA for long-read sequencing from Chlamydomonas reinhardtii.
Autorzy:
Chaux F; CNRS, UMR7238, Institut de Biologie Paris-Seine, Laboratory of Computational and Quantitative Biology, Sorbonne Université, Paris, France.
Agier N; CNRS, UMR7238, Institut de Biologie Paris-Seine, Laboratory of Computational and Quantitative Biology, Sorbonne Université, Paris, France.
Eberhard S; CNRS, UMR7141, Institut de Biologie Physico-Chimique, Laboratory of Chloroplast Biology and Light-Sensing in Microalgae, Sorbonne Université, Paris, France.
Xu Z; CNRS, UMR7238, Institut de Biologie Paris-Seine, Laboratory of Computational and Quantitative Biology, Sorbonne Université, Paris, France.
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Źródło:
PloS one [PLoS One] 2024 Feb 08; Vol. 19 (2), pp. e0297014. Date of Electronic Publication: 2024 Feb 08 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Chlamydomonas reinhardtii*/genetics
Sequence Analysis, DNA/methods ; High-Throughput Nucleotide Sequencing/methods ; DNA/genetics ; Genomics/methods
Czasopismo naukowe
Tytuł:
Enabling low-cost and robust essentiality studies with high-throughput transposon mutagenesis (HTTM).
Autorzy:
Champie A; Département de biologie, Université de Sherbrooke, Sherbrooke, Québec, Canada.
De Grandmaison A; Département de biologie, Université de Sherbrooke, Sherbrooke, Québec, Canada.
Jeanneau S; Département de biologie, Université de Sherbrooke, Sherbrooke, Québec, Canada.
Grenier F; Département de biologie, Université de Sherbrooke, Sherbrooke, Québec, Canada.
Jacques PÉ; Département de biologie, Université de Sherbrooke, Sherbrooke, Québec, Canada.
Rodrigue S; Département de biologie, Université de Sherbrooke, Sherbrooke, Québec, Canada.
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Źródło:
PloS one [PLoS One] 2023 Apr 11; Vol. 18 (4), pp. e0283990. Date of Electronic Publication: 2023 Apr 11 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Transposable Elements*
High-Throughput Nucleotide Sequencing*/methods
Reproducibility of Results ; Mutagenesis ; Research ; Escherichia coli/genetics
Czasopismo naukowe
Tytuł:
Screening and characterization of sex-specific sequences through 2b-RAD sequencing in American shad (Alosa sapidissima).
Autorzy:
Du J; Suzhou Fishseeds Bio-Technology, Suzhou, Jiangsu, China.; College of Materials and Environmental Engineering, Hangzhou Dianzi University, Hangzhou, Zhejiang, China.
Liu Q; Suzhou Fishseeds Bio-Technology, Suzhou, Jiangsu, China.; Wisdom Lake Academy of Pharmacy, Xi'an Jiaotong-Liverpool University, Suzhou, Jiangsu, China.
Zheng Y; Suzhou Health-Origin Bio-Technology, Suzhou, Jiangsu, China.
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Źródło:
PloS one [PLoS One] 2023 Mar 02; Vol. 18 (3), pp. e0282165. Date of Electronic Publication: 2023 Mar 02 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Fishes*
High-Throughput Nucleotide Sequencing*
Female ; Male ; Animals ; Humans ; Aquaculture ; China ; Chromosomes, Human, Pair 3
Czasopismo naukowe
Tytuł:
Reliability of species detection in 16S microbiome analysis: Comparison of five widely used pipelines and recommendations for a more standardized approach.
Autorzy:
Hiergeist A; Institute of Clinical Microbiology and Hygiene, University Hospital Regensburg, Regensburg, Germany.
Ruelle J; SmartGene Services SARL, Lausanne, Switzerland.
Emler S; SmartGene Services SARL, Lausanne, Switzerland.
Gessner A; Institute of Clinical Microbiology and Hygiene, University Hospital Regensburg, Regensburg, Germany.
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Źródło:
PloS one [PLoS One] 2023 Feb 16; Vol. 18 (2), pp. e0280870. Date of Electronic Publication: 2023 Feb 16 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
High-Throughput Nucleotide Sequencing*/methods
Microbiota*/genetics
Reproducibility of Results ; Bacteria/genetics ; Base Sequence ; RNA, Ribosomal, 16S/genetics ; Sequence Analysis, DNA/methods
Czasopismo naukowe
Tytuł:
Inflated expectations: Rare-variant association analysis using public controls.
Autorzy:
Kim J; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Karyadi DM; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Hartley SW; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Zhu B; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Wang M; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.; Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland, United States of America.
Wu D; Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.; Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland, United States of America.
Song L; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Armstrong GT; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee, United States of America.
Bhatia S; Institute for Cancer Outcomes and Survivorship, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Robison LL; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee, United States of America.
Yasui Y; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee, United States of America.
Carter B; Department of Population Science, American Cancer Society, Atlanta, Georgia, United States of America.
Sampson JN; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Freedman ND; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Goldstein AM; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Mirabello L; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Chanock SJ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Morton LM; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Savage SA; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Stewart DR; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Jan 25; Vol. 18 (1), pp. e0280951. Date of Electronic Publication: 2023 Jan 25 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural
MeSH Terms:
Motivation*
High-Throughput Nucleotide Sequencing*/methods
Polymorphism, Single Nucleotide ; Software
Czasopismo naukowe
Tytuł:
Assessment of mastitis in camel using high-throughput sequencing.
Autorzy:
Rahmeh R; Environment & Life Sciences Research Center, Kuwait Institute for Scientific Research, Kuwait City, Kuwait.
Akbar A; Environment & Life Sciences Research Center, Kuwait Institute for Scientific Research, Kuwait City, Kuwait.
Alomirah H; Environment & Life Sciences Research Center, Kuwait Institute for Scientific Research, Kuwait City, Kuwait.
Kishk M; Environment & Life Sciences Research Center, Kuwait Institute for Scientific Research, Kuwait City, Kuwait.
Al-Ateeqi A; Environment & Life Sciences Research Center, Kuwait Institute for Scientific Research, Kuwait City, Kuwait.
Shajan A; Environment & Life Sciences Research Center, Kuwait Institute for Scientific Research, Kuwait City, Kuwait.
Alonaizi T; Environment & Life Sciences Research Center, Kuwait Institute for Scientific Research, Kuwait City, Kuwait.
Esposito A; International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.
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Źródło:
PloS one [PLoS One] 2022 Dec 07; Vol. 17 (12), pp. e0278456. Date of Electronic Publication: 2022 Dec 07 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Camelus*
High-Throughput Nucleotide Sequencing*
Animals
Czasopismo naukowe
Tytuł:
NGSpop: A desktop software that supports population studies by identifying sequence variations from next-generation sequencing data.
Autorzy:
Lee DJ; Genomics Division, National Institute of Agricultural Science, Jeonju, Republic of Korea.
Kwon T; Corporate R&D Center, Cloud9, Cheongju-si, Republic of Korea.
Lee HJ; Genomics Division, National Institute of Agricultural Science, Jeonju, Republic of Korea.
Oh YH; Genomics Division, National Institute of Agricultural Science, Jeonju, Republic of Korea.
Kim JH; Genomics Division, National Institute of Agricultural Science, Jeonju, Republic of Korea.
Lee TH; Genomics Division, National Institute of Agricultural Science, Jeonju, Republic of Korea.
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Źródło:
PloS one [PLoS One] 2022 Nov 17; Vol. 17 (11), pp. e0260908. Date of Electronic Publication: 2022 Nov 17 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
High-Throughput Nucleotide Sequencing*/methods
Software*
Computational Biology/methods ; Quality Control ; Data Analysis
Czasopismo naukowe
Tytuł:
Novel genotyping algorithms for rare variants significantly improve the accuracy of Applied Biosystems™ Axiom™ array genotyping calls: Retrospective evaluation of UK Biobank array data.
Autorzy:
Mizrahi-Man O; Thermo Fisher Scientific, Santa Clara, CA, United States of America.
Woehrmann MH; Thermo Fisher Scientific, Santa Clara, CA, United States of America.
Webster TA; Thermo Fisher Scientific, Santa Clara, CA, United States of America.
Gollub J; Thermo Fisher Scientific, Santa Clara, CA, United States of America.
Bivol A; Thermo Fisher Scientific, Santa Clara, CA, United States of America.
Keeble SM; Thermo Fisher Scientific, Santa Clara, CA, United States of America.
Aull KH; Thermo Fisher Scientific, Santa Clara, CA, United States of America.
Mittal A; Thermo Fisher Scientific, Santa Clara, CA, United States of America.
Roter AH; Thermo Fisher Scientific, Santa Clara, CA, United States of America.
Wong BA; Thermo Fisher Scientific, Santa Clara, CA, United States of America.
Schmidt JP; Thermo Fisher Scientific, Santa Clara, CA, United States of America.
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Źródło:
PloS one [PLoS One] 2022 Nov 17; Vol. 17 (11), pp. e0277680. Date of Electronic Publication: 2022 Nov 17 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
High-Throughput Nucleotide Sequencing*/methods
Humans ; Genotype ; Retrospective Studies ; Biological Specimen Banks ; Polymorphism, Single Nucleotide ; Algorithms ; United Kingdom
Czasopismo naukowe
Tytuł:
Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.
Autorzy:
Milla E; Glaucoma Unit, Department of Ophthalmology, ICOF, Hospital Clínic de Barcelona, Barcelona, Spain.; Innova Ocular-ICO, Barcelona, Spain.
Laguna J; Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, Barcelona, Spain.
Alforja MS; Glaucoma Unit, Department of Ophthalmology, ICOF, Hospital Clínic de Barcelona, Barcelona, Spain.
Pascual B; Molecular Genetics Unit, Hospital de Terrassa, Barcelona, Spain.
Gamundi MJ; Molecular Genetics Unit, Hospital de Terrassa, Barcelona, Spain.
Borràs E; Molecular Genetics Unit, Hospital de Terrassa, Barcelona, Spain.
Hernán I; Molecular Genetics Unit, Hospital de Terrassa, Barcelona, Spain.
Muniesa MJ; Glaucoma Unit, Department of Ophthalmology, ICOF, Hospital Clínic de Barcelona, Barcelona, Spain.
Pazos M; Glaucoma Unit, Department of Ophthalmology, ICOF, Hospital Clínic de Barcelona, Barcelona, Spain.
Duch S; Innova Ocular-ICO, Barcelona, Spain.
Carballo M; Molecular Genetics Unit, Hospital de Terrassa, Barcelona, Spain.
Jodar M; Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, Barcelona, Spain.; Department of Biomedicine, Faculty of Medicine and Biomedical Sciences, University of Barcelona, Barcelona, Spain.
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Corporate Authors:
EMEIGG group
Źródło:
PloS one [PLoS One] 2024 Jan 19; Vol. 19 (1), pp. e0282133. Date of Electronic Publication: 2024 Jan 19 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Glaucoma, Open-Angle*/diagnosis
Glaucoma, Open-Angle*/genetics
Glaucoma*/genetics
Adult ; Humans ; Alleles ; Base Sequence ; High-Throughput Nucleotide Sequencing ; Polymorphism, Single Nucleotide ; Genetic Predisposition to Disease
Czasopismo naukowe

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