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Πλοήγηση ανά Θέμα "High-Throughput Nucleotide Sequencing"

Αποτελέσματα 1-17 από 17

    • Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another? 

      Germenis A.E., Vatsiou S., Csuka D., Zamanakou M., Farkas H. (2021)
      [No abstract available]

    • DIANA-LncBase v3: Indexing experimentally supported miRNA targets on non-coding transcripts 

      Karagkouni D., Paraskevopoulou M.D., Tastsoglou S., Skoufos G., Karavangeli A., Pierros V., Zacharopoulou E., Hatzigeorgiou A.G. (2020)
      DIANA-LncBase v3.0 (www.microrna.gr/LncBase) is a reference repository with experimentally supported miRNA targets on non-coding transcripts. Its third version provides approximately half a million entries, corresponding ...

    • Diana-map: Analyzing mirna from raw ngs data to quantification 

      Alexiou A., Zisis D., Kavakiotis I., Miliotis M., Koussounadis A., Karagkouni D., Hatzigeorgiou A.G. (2021)
      microRNAs (miRNAs) are small non-coding RNAs (~22 nts) that are considered central post-transcriptional regulators of gene expression and key components in many pathological conditions. Next-Generation Sequencing (NGS) ...

    • DIANA-TarBase v8: A decade-long collection of experimentally supported miRNA-gene interactions 

      Karagkouni D., Paraskevopoulou M.D., Chatzopoulos S., Vlachos I.S., Tastsoglou S., Kanellos I., Papadimitriou D., Kavakiotis I., Maniou S., Skoufos G., Vergoulis T., Dalamagas T., Hatzigeorgiou A.G. (2018)
      DIANA-TarBase v8 (http://www.microrna.gr/tarbase) is a reference database devoted to the indexing of experimentally supported microRNA (miRNA) targets. Its eighth version is the first database indexing >1 million entries, ...

    • LaGomiCs - Lagomorph Genomics Consortium: An International Collaborative Effort for Sequencing the Genomes of an Entire Mammalian Order 

      Fontanesi L., Di Palma F., Flicek P., Smith A.T., Thulin C.-G., Alves P.C., Abrantes J., Andersson L., Angelone C., Boonstra R., Campos R., Carneiro M., Casadio R., Cervantes F.A., Dahal N., Djan M., Esteves P.J., Etherington G., Fan J., Fickel J., Ge D., Husband T., King T., Kovach A.I., Lavazza A., Letty J., Lissovsky A.A., Mage R., Mamuris Z., Martelli P.L., McGreevy T., Jr., Melo-Ferreira J., Muffato M., Ramakrishnan U., Randi E., Reid N., Ribani A., Robinson T.J., Russello M.A., Schiavo G., Schneider-Gricar V., Solari K.A., Streeter I., Tizzani P., Tur A., Utzeri V.J., Velickovic N., Vernesi C., Yang Q., Lagomorph Genomics Consortium (2016)
      The order Lagomorpha comprises about 90 living species, divided in 2 families: the pikas (Family Ochotonidae), and the rabbits, hares, and jackrabbits (Family Leporidae). Lagomorphs are important economically and scientifically ...

    • Manatee: detection and quantification of small non-coding RNAs from next-generation sequencing data 

      Handzlik J.E., Tastsoglou S., Vlachos I.S., Hatzigeorgiou A.G. (2020)
      Small non-coding RNAs (sncRNAs) play important roles in health and disease. Next Generation Sequencing (NGS) technologies are considered as the most powerful and versatile methodologies to explore small RNA (sRNA) ...

    • Microbial spoilage investigation of thawed common cuttlefish (Sepia officinalis) stored at 2 °C using next generation sequencing and volatilome analysis 

      Parlapani F.F., Michailidou S., Anagnostopoulos D.A., Sakellariou A.K., Pasentsis K., Psomopoulos F., Argiriou A., Haroutounian S.A., Boziaris I.S. (2018)
      Cephalopods are highly appreciated with increasing demand seafood, but are also very perishable and deteriorate fast mainly due to microbiological spoilage. For this reason exploration of bacterial communities through 16S ...

    • microCLIP super learning framework uncovers functional transcriptome-wide miRNA interactions 

      Paraskevopoulou M.D., Karagkouni D., Vlachos I.S., Tastsoglou S., Hatzigeorgiou A.G. (2018)
      Argonaute crosslinking and immunoprecipitation (CLIP) experiments are the most widely used high-throughput methodologies for miRNA targetome characterization. The analysis of Photoactivatable Ribonucleoside-Enhanced (PAR) ...

    • Mitogenomic analysis in European brown hare (Lepus europaeus) proposes genetic and functional differentiation between the distinct lineages 

      Giannoulis T., Stamatis C., Tsipourlianos A., Mamuris Z. (2018)
      European brown hare is a small game species spreading across Europe to Asia Minor, with important economic traits. Population genetics studies using mitochondrial DNA markers have revealed the existence of two major ...

    • A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency 

      Vatsiou S., Zamanakou M., Loules G., Psarros F., Parsopoulou F., Csuka D., Valerieva A., Staevska M., Porebski G., Obtulowicz K., Magerl M., Maurer M., Speletas M., Farkas H., Germenis A.E. (2020)
      Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH-HAE cases with no mutation in the coding region of ...

    • Positive selection and precipitation effects on the mitochondrial NADH dehydrogenase subunit 6 gene in brown hares (Lepus europaeus) under a phylogeographic perspective 

      Stefanović M., Djan M., Veličković N., Beuković D., Lavadinović V., Zhelev C.D., Demirbaş Y., Paule L., Gedeon C.I., Mamuris Z., Posautz A., Beiglböck C., Kübber-Heiss A., Suchentrunk F. (2019)
      Previous studies in hares and jackrabbits have indicated that positive selection has shaped the genetic diversity of mitochondrial genes involved in oxidative phosphorylation, which may affect cellular energy production ...

    • Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration 

      Ratnapriya, R.; Zhan, X.; Fariss, R. N.; Branham, K. E.; Zipprer, D.; Chakarova, C. F.; Sergeev, Y. V.; Campos, M. M.; Othman, M.; Friedman, J. S.; Maminishkis, A.; Waseem, N. H.; Brooks, M.; Rajasimha, H. K.; Edwards, A. O.; Lotery, A.; Klein, B. E.; Truitt, B. J.; Li, B.; Schaumberg, D. A.; Morgan, D. J.; Morrison, M. A.; Souied, E.; Tsironi, E. E.; Grassmann, F.; Fishman, G. A.; Silvestri, G.; Scholl, H. P. N.; Kim, I. K.; Ramke, J.; Tuo, J.; Merriam, J. E.; Merriam, J. C.; Park, K. H.; Olson, L. M.; Farrer, L. A.; Johnson, M. P.; Peachey, N. S.; Lathrop, M.; Baron, R. V.; Igo, R. P.; Klein, R.; Hagstrom, S. A.; Kamatani, Y.; Martin, T. M.; Jiang, Y.; Conley, Y.; Sahel, J. A.; Zack, D. J.; Chan, C. C.; Pericak-Vance, M. A.; Jacobson, S. G.; Gorin, M. B.; Klein, M. L.; Allikmets, R.; Iyengar, S. K.; Weber, B. H.; Haines, J. L.; Léveillard, T.; Deangelis, M. M.; Stambolian, D.; Weeks, D. E.; Bhattacharya, S. E.; Chew, E. Y.; Heckenlively, J. R.; Abecasis, G. R.; Swaroop, A. (2014)
      Neurodegenerative diseases affecting the macula constitute amajor cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial lateonset ...

    • Role of microbial diversity for sustainable pyrite oxidation control in acid and metalliferous drainage prevention 

      Ogbughalu O.T., Vasileiadis S., Schumann R.C., Gerson A.R., Li J., Smart R.S.C., Short M.D. (2020)
      Acid and metalliferous drainage (AMD) remains a challenging issue for the mining sector. AMD management strategies have attempted to shift from treatment of acid leachates post-generation to more sustainable at-source ...

    • Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome 

      Papadopoulou A., Dinopoulos A., Koutsodontis G., Pons R., Vorgia P., Koute V., Vratimos A., Zafeiriou D. (2018)
      Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, ...

    • Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency 

      Loules G., Zamanakou M., Parsopoulou F., Vatsiou S., Psarros F., Csuka D., Porebski G., Obtulowicz K., Valerieva A., Staevska M., López-Lera A., López-Trascasa M., Moldovan D., Magerl M., Maurer M., Speletas M., Farkas H., Germenis A.E. (2018)
      SERPING1 genotyping of subjects suspicious for hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) is important for clinical practice as well as for research reasons. Conventional approaches towards the detection ...

    • Thumb duplication: molecular analysis of different clinical types 

      Kyriazis Z., Kollia P., Grivea I., Varitimidis S.E., Constantoulakis P., Dailiana Z.H. (2019)
      Purpose: Molecular analysis of different types of thumb duplication and identification of new suspected gene mutations. Materials and methods: In a series of patients operated for polydactyly, DNA was extracted from blood ...

    • The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species 

      Papanicolaou A., Schetelig M.F., Arensburger P., Atkinson P.W., Benoit J.B., Bourtzis K., Castañera P., Cavanaugh J.P., Chao H., Childers C., Curril I., Dinh H., Doddapaneni H.V., Dolan A., Dugan S., Friedrich M., Gasperi G., Geib S., Georgakilas G., Gibbs R.A., Giers S.D., Gomulski L.M., González-Guzmán M., Guillem-Amat A., Han Y., Hatzigeorgiou A.G., Hernández-Crespo P., Hughes D.S.T., Jones J.W., Karagkouni D., Koskinioti P., Lee S.L., Malacrida A.R., Manni M., Mathiopoulos K., Meccariello A., Murali S.C., Murphy T.D., Muzny D.M., Oberhofer G., Ortego F., Paraskevopoulou M.D., Poelchau M., Qu J., Reczko M., Robertson H.M., Rosendale A.J., Rosselot A.E., Saccone G., Salvemini M., Savini G., Schreiner P., Scolari F., Siciliano P., Sim S.B., Tsiamis G., Ureña E., Vlachos I.S., Werren J.H., Wimmer E.A., Worley K.C., Zacharopoulou A., Richards S., Handler A.M. (2016)
      Background: The Mediterranean fruit fly (medfly), Ceratitis capitata, is a major destructive insect pest due to its broad host range, which includes hundreds of fruits and vegetables. It exhibits a unique ability to invade ...