المؤلفون: Hehir-Kwa, Jayne Y, Marschall, Tobias, Kloosterman, Wigard P, Francioli, Laurent C, Baaijens, Jasmijn A, Dijkstra, Louis J, Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P, Deelen, Patrick, de Ligt, Joep, Lameijer, Eric-Wubbo, van Dijk, Freerk, Hormozdiari, Fereydoun, Genome of the Netherlands Consortium, Uitterlinden, André G, van Duijn, Cornelia M, Eichler, Evan E, de Bakker, Paul IW, Swertz, Morris A, Wijmenga, Cisca, van Ommen, Gert-Jan B, Slagboom, P Eline, Boomsma, Dorret I, Schönhuth, Alexander, Ye, Kai, Guryev, Victor

المصدر: Nature communications. 7(1)

مصطلحات موضوعية: Genome of the Netherlands Consortium, Chromosomes, Humans, RNA, Polymerase Chain Reaction, Sequence Analysis, DNA, Sequence Analysis, RNA, Computational Biology, Genomics, Gene Deletion, Genotype, Haplotypes, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genome, Human, Algorithms, Software, Netherlands, INDEL Mutation, Genomic Structural Variation, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Genome, Human

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/54n4z1k5Test

المؤلفون: Kloosterman, Wigard P, Francioli, Laurent C, Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y, Abdellaoui, Abdel, Lameijer, Eric-Wubbo, Moed, Matthijs H, Koval, Vyacheslav, Renkens, Ivo, van Roosmalen, Markus J, Arp, Pascal, Karssen, Lennart C, Coe, Bradley P, Handsaker, Robert E, Suchiman, Eka D, Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C, Consortium, Genome of the Netherlands, Uitterlinden, André, van Duijn, Cornelia M, Swertz, Morris A, Wijmenga, Cisca, van Ommen, GertJan B, Slagboom, P Eline, Boomsma, Dorret I, Schönhuth, Alexander, Eichler, Evan E, de Bakker, Paul IW, Ye, Kai, Guryev, Victor

المصدر: Genome Research. 25(6)

مصطلحات موضوعية: Genetics, Human Genome, Alleles, Amino Acid Sequence, Female, Genetic Variation, Genome, Human, Genomics, Haplotypes, Humans, INDEL Mutation, Male, Molecular Sequence Data, Mutation Rate, Polymorphism, Single Nucleotide, Retroelements, Sequence Alignment, Sequence Analysis, DNA, Genome of Netherlands Consortium, Biological Sciences, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1vz5t8mcTest

المؤلفون: Van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, Van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, Van Hasselt, Peter M., Triffaux, Emily M.M., Van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E S, Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., Coffer, Paul J.

المساهمون: Stoma/continentiezorg, MDL onderzoek 1, Child Health, Onderzoek Precision medicine, Cancer, CMM Groep Coffer, Infection & Immunity, Immuno/reuma patientenzorg, Metabole ziekten patientenzorg, Cluster C, CTI Vastert, Genetica Klinische Genetica, Genetica Medische Informatica, CMM Groep Kloosterman, Zorg en O&O, Regenerative Medicine and Stem Cells, CMM Groep Cuppen, Circulatory Health, Brain, MDL patientenzorg, Immunologie onderzoek 2, CMM Sectie Stem Cells

مصطلحات موضوعية: Age of Onset, Alleles, Ankyrin Repeat/genetics, Apoptosis, Carrier Proteins/genetics, Cell Line, Tumor, Child, Preschool, Exome, Female, Fibroblasts/metabolism, Genome, Human, HEK293 Cells, Homozygote, Humans, Infant, Inflammation, Inflammatory Bowel Diseases/genetics, Lymphocytes/cytology, Male, Mitochondria/metabolism, Mutation, Phenotype, RNA, Small Interfering/metabolism, Sequence Analysis, DNA, Zinc/chemistry

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/350453Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/350453Test

المؤلفون: van Heesch, Sebastiaan, Kloosterman, Wigard P., Lansu, Nico, Ruzius, Frans-Paul, Levandowsky, Elizabeth, Lee, Clarence C., Zhou, Shiguo, Goldstein, Steve, Schwartz, David C., Harkins, Timothy T., Guryev, Victor, Cuppen, Edwin

المصدر: van Heesch , S , Kloosterman , W P , Lansu , N , Ruzius , F-P , Levandowsky , E , Lee , C C , Zhou , S , Goldstein , S , Schwartz , D C , Harkins , T T , Guryev , V & Cuppen , E 2013 , ' Improving mammalian genome scaffolding using large insert mate-pair next-generation sequencing ' , BMC Genomics , vol. 14 , 257 . https://doi.org/10.1186/1471-2164-14-257Test

مصطلحات موضوعية: Genome structure, Genome scaffolding, Mate-pair next-generation sequencing, Contig assembly, Rat genome, STRUCTURAL VARIATION, GEL-ELECTROPHORESIS, CANCER GENOMES, CHROMOTHRIPSIS, DNA, REARRANGEMENTS, ASSEMBLIES, RESOLUTION, EVOLUTION, PATTERNS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/8404c9a0-24d0-498f-9274-1d07a7582a80Test

الإتاحة: https://doi.org/10.1186/1471-2164-14-257Test
https://hdl.handle.net/11370/8404c9a0-24d0-498f-9274-1d07a7582a80Test
https://research.rug.nl/en/publications/8404c9a0-24d0-498f-9274-1d07a7582a80Test
https://pure.rug.nl/ws/files/54275135/1471_2164_14_257.pdfTest

المؤلفون: Hehir-Kwa, Jayne, Marschall, Tobias, Kloosterman, Wigard, Francioli, Laurent, Baaijens, Jasmijn, Dijkstra, Louis, Abdellaoui, Abdel, Koval, Vyacheslav, Thung, (), Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley, Deelen, Patrick, Ligt, Joep, Lameijer, Eric-Wubbo, Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André, Duijn, Cornelia, Eichler, Evan, Bakker, Paul, Swertz, Morris, Wijmenga, Cisca, Ommen, Gert-Jan, Slagboom, Eline, Boomsma, Dorret, Schönhuth, Alexander, Ye, Kai, Guryev, Victor, Bovenberg, Jasper, Craen, Anton, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Neerincx, Pieter, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen, Dunnen, Johan, Knijff, Peter, Karssen, Lennart, van Leeuwen, Elisa, Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, Hottenga, Jouke-Jan, Kattenberg, Mathijs, Enckevort, David, Mei, Hailiang, Santcroos, Mark, Schaik, Barbera, Handsaker, Robert, McCarroll, Steven, Ko, Arthur, Sudmant, Peter, Nijman, Isaac

المساهمون: Internal Medicine, Epidemiology, Biological Psychology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Bioinformatics, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Research Institute for Asthma and COPD (GRIAC), Adult Psychiatry, Epidemiology and Data Science, APH - Methodology, AII - Inflammatory diseases, AII - Cancer immunology, CCA - Cancer biology and immunology, APH - Personalized Medicine, ACS - Amsterdam Cardiovascular Sciences, AII - Amsterdam institute for Infection and Immunity, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Amsterdam Neuroscience, CCA -Cancer Center Amsterdam

المصدر: Nature Communications, 7:12989. Nature Publishing Group
Nature Communications
Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
Hehir-Kwa, J Y, Marschall, T, Kloosterman, W P, Francioli, L C, Baaijens, J A, Dijkstra, L J, Abdellaoui, A, Koval, V, Thung, D T, Wardenaar, R, Renkens, I, Coe, B P, Deelen, P, de Ligt, J, Lameijer, E W, Dijk, F, Hormozdiari, F, Uitterlinden, A G, van Duijn, C M, Eichler, E E, Bakker, P I W, Swertz, M A, Wijmenga, C, van Ommen, G J B, Slagboom, P E, Boomsma, D I, Schönhuth, A, Ye, K & Guryev, V 2016, ' A high-quality human reference panel reveals the complexity and distribution of genomic structural variants ', Nature Communications, vol. 7, 12989 . https://doi.org/10.1038/ncomms12989Test
Nature Communications, 7
Nature communications, vol 7, iss 1
Nature communications, 7:12989. Nature Publishing Group
Nature Communications [E], 7. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Netherlands Twin Register (NTR), Chemistry(all), IMPACT, General Physics and Astronomy, SUSCEPTIBILITY, Genome informatics, Biochemistry, Genome, Polymerase Chain Reaction, Linkage Disequilibrium, DISEASE, INDEL Mutation, IMPUTATION, 2.1 Biological and endogenous factors, Copy-number variation, Aetiology, Netherlands, Genetics, Multidisciplinary, Genomics, Single Nucleotide, ASSOCIATION, Genome of the Netherlands Consortium, Sequence Analysis, Algorithms, Human, Biotechnology, Genotype, DATABASE, Science, Genomic Structural Variation, Computational biology, Physics and Astronomy(all), Biology, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, Chromosomes, GENETIC ARCHITECTURE, Structural variation, 03 medical and health sciences, Journal Article, Humans, Polymorphism, COPY NUMBER VARIATION, Whole genome sequencing, Biochemistry, Genetics and Molecular Biology(all), Genome, Human, Sequence Analysis, RNA, DELETION, Human Genome, Computational Biology, General Chemistry, Sequence Analysis, DNA, DNA, 030104 developmental biology, TRIOS, Haplotypes, Next-generation sequencing, RNA, Human genome, Generic health relevance, Imputation (genetics), Gene Deletion, Software, Genetics and Molecular Biology(all)

وصف الملف: application/pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a94368ffbaf67544d51e423204c9e3bTest
https://pub.uni-bielefeld.de/record/2941790Test

المؤلفون: Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, Van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, Van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., De Bakker, Paul I W, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F J, Den Dunnen, Johan T., De Knijff, Peter, Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, De Ligt, Joep, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, Nijman, Isaac J.

المساهمون: Adult Psychiatry, Epidemiology and Data Science, ACS - Amsterdam Cardiovascular Sciences, AII - Amsterdam institute for Infection and Immunity, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Amsterdam Neuroscience, CCA -Cancer Center Amsterdam, Biological Psychology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, Internal Medicine, Epidemiology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Research Institute for Asthma and COPD (GRIAC)

المصدر: Genome research, 25(6), 792-801. Cold Spring Harbor Laboratory Press
Genome Research, 25, 6, pp. 792-801
Genome Research, 25(6), 792-801
Genome Research, 25(6), 792-801. Cold Spring Harbor Laboratory Press
Kloosterman, W P, Francioli, L C, Hormozdiari, F, Marschall, T, Hehir-Kwa, J Y, Abdellaoui, A, Lameijer, E W, Moed, M H, Koval, V, Renkens, I, van Roosmalen, M J, Arp, P, Karssen, L C, Coe, B P, Handsaker, R E, Suchiman, H E D, Cuppen, E, Tjwan Thung, D, McVey, M, Wendl, M C, Uitterlinden, A G, van Duijn, C M, Swertz, M A, Wijmenga, C, van Ommen, G J B, Slagboom, P E, Boomsma, D I, Schönhuth, A, Eichler, E E, Bakker, P I W, Ye, K & Guryev, V 2015, ' Characteristics of de novo structural changes in the human genome ', Genome Research, vol. 25, no. 6, pp. 792-801 . https://doi.org/10.1101/gr.185041.114Test
Genome Research, 25(6), 792. Cold Spring Harbor Laboratory Press
Genome research, vol 25, iss 6
Genome Research, 25, 792-801
Genome Research, 25(6), 792-801. COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT

مصطلحات موضوعية: Male, Netherlands Twin Register (NTR), Mutation rate, INTELLECTUAL DISABILITY, Retrotransposon, Genome of Netherlands Consortium, VARIANTS, Medical and Health Sciences, Genome, 0302 clinical medicine, INDEL Mutation, Mutation Rate, Genetics(clinical), Copy-number variation, Genetics (clinical), Genetics, 0303 health sciences, education.field_of_study, food and beverages, Genomics, Single Nucleotide, Biological Sciences, Female, Sequence Analysis, Human, Retroelements, SEQUENCING DATA, Bioinformatics, Molecular Sequence Data, Population, MUTATION-RATES, POPULATION-SCALE, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Humans, Amino Acid Sequence, Polymorphism, Indel, education, Alleles, 030304 developmental biology, COPY NUMBER VARIATION, INDIVIDUAL HUMAN, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, Genome, Human, Research, Human Genome, Genetic Variation, Sequence Analysis, DNA, DNA, GENE, Haplotypes, DISCOVERY, Human genome, Sequence Alignment, 030217 neurology & neurosurgery

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9251dc3de0257e9c1afade755cd46fdfTest
https://pure.amc.nl/en/publications/characteristics-of-de-novo-structural-changes-in-the-human-genomeTest(195fa0c7-190d-4ec8-902c-47dd8d184f40).html