المؤلفون: Hartasánchez Frenk, Diego Andrés

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

مرشدي الرسالة: Navarro, Arcadi

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Interlocus gene conversion, Segmental duplications, Forward simulator, Recombination, Sequence similarity, Conversió gènica interlocus, Duplicacions de segments, Simulador endavant en el temps, Recombinació, Similitud de sequències

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/525842Test

المؤلفون: Prodanov, Timofey, Bansal, Vikas

المصدر: Bioinformatics. 39(Suppl 1)

مصطلحات موضوعية: Human Genome, Genetics, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, Good Health and Well Being, Humans, Segmental Duplications, Genomic, DNA Copy Number Variations, Whole Genome Sequencing, Benchmarking, Genome, Human, Mathematical Sciences, Biological Sciences, Information and Computing Sciences, Bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3g9271wdTest

المؤلفون: Vollger, Mitchell R, Dishuck, Philip C, Harvey, William T, DeWitt, William S, Guitart, Xavi, Goldberg, Michael E, Rozanski, Allison N, Lucas, Julian, Asri, Mobin, Munson, Katherine M, Lewis, Alexandra P, Hoekzema, Kendra, Logsdon, Glennis A, Porubsky, David, Paten, Benedict, Harris, Kelley, Hsieh, PingHsun, Eichler, Evan E

المصدر: Nature. 617(7960)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Humans, Gene Conversion, Genome, Human, Mutation, Segmental Duplications, Genomic, Polymorphism, Single Nucleotide, Haplotypes, Exons, Cytosine, Guanine, CpG Islands, Human Pangenome Reference Consortium, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9rq1z7r1Test

المؤلفون: Porubsky, David, Vollger, Mitchell R, Harvey, William T, Rozanski, Allison N, Ebert, Peter, Hickey, Glenn, Hasenfeld, Patrick, Sanders, Ashley D, Stober, Catherine, Consortium, Human Pangenome Reference, Korbel, Jan O, Paten, Benedict, Marschall, Tobias, Eichler, Evan E, Abel, Haley J, Antonacci-Fulton, Lucinda L, Asri, Mobin, Baid, Gunjan, Baker, Carl A, Belyaeva, Anastasiya, Billis, Konstantinos, Bourque, Guillaume, Buonaiuto, Silvia, Carroll, Andrew, Chaisson, Mark JP, Chang, Pi-Chuan, Chang, Xian H, Cheng, Haoyu, Chu, Justin, Cody, Sarah, Colonna, Vincenza, Cook, Daniel E, Cook-Deegan, Robert M, Cornejo, Omar E, Diekhans, Mark, Doerr, Daniel, Ebler, Jana, Eizenga, Jordan M, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L, Feng, Xiaowen, Fischer, Christian, Flicek, Paul, Formenti, Giulio, Frankish, Adam, Fulton, Robert S, Gao, Yan, Garg, Shilpa, Garrison, Erik, Garrison, Nanibaa’ A, Giron, Carlos Garcia, Green, Richard E, Groza, Cristian, Guarracino, Andrea, Haggerty, Leanne, Hall, Ira M, Haukness, Marina, Haussler, David, Heumos, Simon, Hoekzema, Kendra, Hourlier, Thibaut, Howe, Kerstin, Jain, Miten, Jarvis, Erich D, Ji, Hanlee P, Kenny, Eimear E, Koenig, Barbara A, Kolesnikov, Alexey, Kordosky, Jennifer, Koren, Sergey, Lee, HoJoon, Lewis, Alexandra P, Li, Heng, Liao, Wen-Wei, Lu, Shuangjia, Lu, Tsung-Yu, Lucas, Julian K, Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, Markello, Charles, Martin, Fergal J, McCartney, Ann, McDaniel, Jennifer, Miga, Karen H, Mitchell, Matthew W, Monlong, Jean, Mountcastle, Jacquelyn, Munson, Katherine M, Mwaniki, Moses Njagi, Nattestad, Maria, Novak, Adam M, Nurk, Sergey

المصدر: Genome Research. 33(4)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Humans, DNA, Satellite, Polymorphism, Genetic, Haplotypes, Segmental Duplications, Genomic, Sequence Analysis, DNA, Human Pangenome Reference Consortium, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8k2708m7Test

المؤلفون: Lorente Galdós, Maria Belén

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

مرشدي الرسالة: Navarro, Arcadi, Marquès i Bonet, Tomàs

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Natural selection, Positiva selection, Gene duplication, Molecular evolution, Segmental duplications, Selecció natural, Selecció positiva, Duplicació genètica, Evolució molecular, Duplicació segmentària

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/53562Test

المؤلفون: Yilmaz, Feyza, Gurusamy, Umamaheswaran, Mosley, Trenell J, Hallast, Pille, Kim, Kwondo, Mostovoy, Yulia, Purcell, Ryan H, Shaikh, Tamim H, Zwick, Michael E, Kwok, Pui-Yan, Lee, Charles, Mulle, Jennifer G

المصدر: Genome Medicine. 15(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Humans, Segmental Duplications, Genomic, Chromosome Mapping, Genomics, Syndrome, Haplotypes, DNA Copy Number Variations, 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6cv3233cTest

المؤلفون: Toh, Huishi, Yang, Chentao, Formenti, Giulio, Raja, Kalpana, Yan, Lily, Tracey, Alan, Chow, William, Howe, Kerstin, Bergeron, Lucie, Zhang, Guojie, Haase, Bettina, Mountcastle, Jacquelyn, Fedrigo, Olivier, Fogg, John, Kirilenko, Bogdan, Munegowda, Chetan, Hiller, Michael, Jain, Aashish, Kihara, Daisuke, Rhie, Arang, Phillippy, Adam, Swanson, Scott, Jiang, Peng, Jarvis, Erich, Thomson, James, Stewart, Ron, Chaisson, Mark, Bukhman, Yury, Clegg, Dennis

المصدر: Journal of Biology. 20(1)

مصطلحات موضوعية: Arvicanthis niloticus, Diabetes, Diurnal, Genome, Germline mutation rate, Heterozygosity, Long-read genome assembly, Orthology, Positive selection, Retrogenes, Segmental duplications, Humans, Animals, Haplotypes, Diabetes Mellitus, Type 2, Murinae, Genome, Genomics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6h59q5djTest

المؤلفون: Prodanov, Timofey, Bansal, Vikas

المصدر: Nature Communications. 13(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Prevention, Biodefense, Biotechnology, Human Genome, Vaccine Related, Generic health relevance, DNA Copy Number Variations, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Segmental Duplications, Genomic, Sequence Analysis, DNA, Whole Genome Sequencing

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8f32z1q3Test

المؤلفون: Barbara Poszewiecka, Krzysztof Gogolewski, Justyna A. Karolak, Paweł Stankiewicz, Anna Gambin

المصدر: Genome Biology, Vol 24, Iss 1, Pp 1-23 (2023)

مصطلحات موضوعية: De-novo assembly, Segmental duplications, Long-read PacBio sequencing, Chromosomal fusion, Complex genomic rearrangements, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1474-760XTest

الوصول الحر: https://doaj.org/article/1da674f077d64a558178a1d2ce901c11Test

المؤلفون: Rabeya Akter Mim, Anjana Soorajkumar, Noor Kosaji, Md. Musfiqur Rahman, Shaoli Sarker, Noushad Karuvantevida, Tamannyat Binte Eshaque, Md. Atikur Rahaman, Amirul Islam, Mohammad Mahabubul Alam Chowdhury, Nusrat Shams, K. M. Furkan Uddin, Hosneara Akter, Mohammed Uddin

مصطلحات موضوعية: Genomic Imprinting and Parental Gene Expression Control, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Genomic Rearrangements and Copy Number Variations, Granular Cell Tumor Clinical and Pathological Characteristics, Pathology and Forensic Medicine, Medicine, Health Sciences, Structural Variation, Pathological Characteristics, Genomic Imprinting, Segmental Duplications, High-Resolution Mapping, Imprinting psychology, Phenotype, Biology, Genomic imprinting, Gene, DNA methylation, Gene expression

العلاقة: https://dx.doi.org/10.60692/4p9f5-gmr21Test

الإتاحة: https://doi.org/10.60692/m52gn-06w7310.60692/4p9f5-gmr21Test