المؤلفون: Porubsky, D., Vollger, M.R., Harvey, W.T., Rozanski, A.N., Ebert, P., Hickey, G., Hasenfeld, P., Sanders, A.D., Stober, C., Korbel, J.O., Paten, B., Marschall, T., Eichler, E.E.

مصطلحات موضوعية: Cancer Research, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/23355/1/23355oa.pdfTest; http://edoc.mdc-berlin.de/23355/6/23355suppl.zipTest; Gaps and complex structurally variant loci in phased genome assemblies. Porubsky, D. and Vollger, M.R. and Harvey, W.T. and Rozanski, A.N. and Ebert, P. and Hickey, G. and Hasenfeld, P. and Sanders, A.D. and Stober, C. and Korbel, J.O. and Paten, B. and Marschall, T. and Eichler, E.E. Genome Research 33 (4): 496-510. April 2023

الإتاحة: https://doi.org/10.1101/gr.277334.122Test
http://edoc.mdc-berlin.de/23355Test/
https://edoc.mdc-berlin.de/23355Test/
http://edoc.mdc-berlin.de/23355/1/23355oa.pdfTest
http://edoc.mdc-berlin.de/23355/6/23355suppl.zipTest

المؤلفون: Liao, W.W., Asri, M., Ebler, J., Doerr, D., Haukness, M., Hickey, G., Lu, S., Lucas, J.K., Monlong, J., Abel, H.J., Buonaiuto, S., Chang, X.H., Cheng, H., Chu, J., Colonna, V., Eizenga, J.M., Feng, X., Fischer, C., Fulton, R.S., Garg, S., Groza, C., Guarracino, A., Harvey, W.T., Heumos, S., Howe, K., Jain, M., Lu, T.Y., Markello, C., Martin, F.J., Mitchell, M.W., Munson, K.M., Mwaniki, M.N., Novak, A.M., Olsen, H.E., Pesout, T., Porubsky, D., Prins, P., Sibbesen, J.A., Sirén, J., Tomlinson, C., Villani, F., Vollger, M.R., Antonacci-Fulton, L.L., Baid, G., Baker, C.A., Belyaeva, A., Billis, K., Carroll, A., Chang, P.C., Cody, S., Cook, D.E., Cook-Deegan, R.M., Cornejo, O.E., Diekhans, M., Ebert, P., Fairley, S., Fedrigo, O., Felsenfeld, A.L., Formenti, G., Frankish, A., Gao, Yan, Garrison, N.A., Giron, C.G., Green, R.E., Haggerty, L., Hoekzema, K., Hourlier, T., Ji, H.P., Kenny, E.E., Koenig, B.A., Kolesnikov, A., Korbel, J.O., Kordosky, J., Koren, S., Lee, H.J., Lewis, A.P., Magalhães, H., Marco-Sola, S., Marijon, P., McCartney, A., McDaniel, J., Mountcastle, J., Nattestad, M., Nurk, S., Olson, N.D., Popejoy, A.B., Puiu, D., Rautiainen, M., Regier, A.A., Rhie, A., Sacco, S., Sanders, A.D., Schneider, V.A., Schultz, B.I., Shafin, K., Smith, M.W., Sofia, H.J., Abou Tayoun, A.N., Thibaud-Nissen, F., Tricomi, F.F., Wagner, J., Walenz, B., Wood, J.M.D., Zimin, A.V., Bourque, G., Chaisson, M.J P, Flicek, Paul, Phillippy, A.M., Zook, J.M., Eichler, E.E., Haussler, D., Wang, T., Jarvis, E.D., Miga, K.H., Garrison, E., Marschall, T., Hall, I.M., Li, H., Paten, B.

مصطلحات موضوعية: Cancer Research, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/23354/1/23354oa.pdfTest; http://edoc.mdc-berlin.de/23354/2/23354suppl.zipTest; A draft human pangenome reference. Liao, W.W. and Asri, M. and Ebler, J. and Doerr, D. and Haukness, M. and Hickey, G. and Lu, S. and Lucas, J.K. and Monlong, J. and Abel, H.J. and Buonaiuto, S. and Chang, X.H. and Cheng, H. and Chu, J. and Colonna, V. and Eizenga, J.M. and Feng, X. and Fischer, C. and Fulton, R.S. and Garg, S. and Groza, C. and Guarracino, A. and Harvey, W.T. and Heumos, S. and Howe, K. and Jain, M. and Lu, T.Y. and Markello, C. and Martin, F.J. and Mitchell, M.W. and Munson, K.M. and Mwaniki, M.N. and Novak, A.M. and Olsen, H.E. and Pesout, T. and Porubsky, D. and Prins, P. and Sibbesen, J.A. and Sirén, J. and Tomlinson, C. and Villani, F. and Vollger, M.R. and Antonacci-Fulton, L.L. and Baid, G. and Baker, C.A. and Belyaeva, A. and Billis, K. and Carroll, A. and Chang, P.C. and Cody, S. and Cook, D.E. and Cook-Deegan, R.M. and Cornejo, O.E. and Diekhans, M. and Ebert, P. and Fairley, S. and Fedrigo, O. and Felsenfeld, A.L. and Formenti, G. and Frankish, A. and Gao, Yan and Garrison, N.A. and Giron, C.G. and Green, R.E. and Haggerty, L. and Hoekzema, K. and Hourlier, T. and Ji, H.P. and Kenny, E.E. and Koenig, B.A. and Kolesnikov, A. and Korbel, J.O. and Kordosky, J. and Koren, S. and Lee, H.J. and Lewis, A.P. and Magalhães, H. and Marco-Sola, S. and Marijon, P. and McCartney, A. and McDaniel, J. and Mountcastle, J. and Nattestad, M. and Nurk, S. and Olson, N.D. and Popejoy, A.B. and Puiu, D. and Rautiainen, M. and Regier, A.A. and Rhie, A. and Sacco, S. and Sanders, A.D. and Schneider, V.A. and Schultz, B.I. and Shafin, K. and Smith, M.W. and Sofia, H.J. and Abou Tayoun, A.N. and Thibaud-Nissen, F. and Tricomi, F.F. and Wagner, J. and Walenz, B. and Wood, J.M.D. and Zimin, A.V. and Bourque, G. and Chaisson, M.J P and Flicek, Paul and Phillippy, A.M. and Zook, J.M. and Eichler, E.E. and Haussler, D. and Wang, T. and Jarvis, E.D. and Miga, K.H. and Garrison, E. and Marschall, T. and Hall, I.M. and Li, H. and Paten, B. Nature 617 (7960): 312-324. 11 May 2023

الإتاحة: https://doi.org/10.1038/s41586-023-05896-xTest
http://edoc.mdc-berlin.de/23354Test/
https://edoc.mdc-berlin.de/23354Test/
http://edoc.mdc-berlin.de/23354/1/23354oa.pdfTest
http://edoc.mdc-berlin.de/23354/2/23354suppl.zipTest

المؤلفون: Porubsky, D., Harvey, W.T., Rozanski, A.N., Ebler, J., Höps, W., Ashraf, H., Hasenfeld, P., Paten, B., Sanders, A.D., Marschall, T., Korbel, J.O., Eichler, E.E.

مصطلحات موضوعية: Cancer Research, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/23327/1/23327oa.pdfTest; http://edoc.mdc-berlin.de/23327/2/23327suppl.zipTest; Inversion polymorphism in a complete human genome assembly. Porubsky, D. and Harvey, W.T. and Rozanski, A.N. and Ebler, J. and Höps, W. and Ashraf, H. and Hasenfeld, P. and Paten, B. and Sanders, A.D. and Marschall, T. and Korbel, J.O. and Eichler, E.E. Genome Biology 24 (1): 100. 30 April 2023

الإتاحة: https://doi.org/10.1186/s13059-023-02919-8Test
http://edoc.mdc-berlin.de/23327Test/
https://edoc.mdc-berlin.de/23327Test/
http://edoc.mdc-berlin.de/23327/1/23327oa.pdfTest
http://edoc.mdc-berlin.de/23327/2/23327suppl.zipTest

المؤلفون: Jeong, H., Grimes, K., Rauwolf, K.K., Bruch, P.M., Rausch, T., Hasenfeld, P., Benito, E., Roider, T., Sabarinathan, R., Porubsky, D., Herbst, S.A., Erarslan-Uysal, B., Jann, J.C., Marschall, T., Nowak, D., Bourquin, J.P., Kulozik, A.E., Dietrich, S., Bornhauser, B., Sanders, A.D., Korbel, J.O.

مصطلحات موضوعية: Cancer Research, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/22922/1/22922oa.pdfTest; http://edoc.mdc-berlin.de/22922/2/22922suppl.zipTest; Functional analysis of structural variants in single cells using Strand-seq. Jeong, H. and Grimes, K. and Rauwolf, K.K. and Bruch, P.M. and Rausch, T. and Hasenfeld, P. and Benito, E. and Roider, T. and Sabarinathan, R. and Porubsky, D. and Herbst, S.A. and Erarslan-Uysal, B. and Jann, J.C. and Marschall, T. and Nowak, D. and Bourquin, J.P. and Kulozik, A.E. and Dietrich, S. and Bornhauser, B. and Sanders, A.D. and Korbel, J.O. Nature Biotechnology 41 (6): 832-844. June 2023

الإتاحة: https://doi.org/10.1038/s41587-022-01551-4Test
http://edoc.mdc-berlin.de/22922Test/
https://edoc.mdc-berlin.de/22922Test/
http://edoc.mdc-berlin.de/22922/1/22922oa.pdfTest
http://edoc.mdc-berlin.de/22922/2/22922suppl.zipTest

المؤلفون: Vollger, M.R., Dishuck, P.C., Harvey, W.T., DeWitt, W.S., Guitart, X., Goldberg, M.E., Rozanski, A.N., Lucas, J., Asri, M., Munson, K.M., Lewis, A.P., Hoekzema, K., Logsdon, G.A., Porubsky, D., Paten, B., Harris, K., Hsieh, P.H., Eichler, E.E.

مصطلحات موضوعية: Cancer Research, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/24096/1/24096oa.pdfTest; http://edoc.mdc-berlin.de/24096/2/24096suppl.zipTest; Increased mutation and gene conversion within human segmental duplications. Vollger, M.R. and Dishuck, P.C. and Harvey, W.T. and DeWitt, W.S. and Guitart, X. and Goldberg, M.E. and Rozanski, A.N. and Lucas, J. and Asri, M. and Munson, K.M. and Lewis, A.P. and Hoekzema, K. and Logsdon, G.A. and Porubsky, D. and Paten, B. and Harris, K. and Hsieh, P.H. and Eichler, E.E. Nature 617 (7960): 325-334. 11 May 2023

الإتاحة: https://doi.org/10.1038/s41586-023-05895-yTest
http://edoc.mdc-berlin.de/24096Test/
https://edoc.mdc-berlin.de/24096Test/
http://edoc.mdc-berlin.de/24096/1/24096oa.pdfTest
http://edoc.mdc-berlin.de/24096/2/24096suppl.zipTest

المؤلفون: Jeong, H., Grimes, K., Rauwolf, K., Bruch, P., Rausch, T., Hasenfeld, P., Benito, E., Roider, T., Sabarinathan, R., Porubsky, D., Herbst, S., Erarslan-Uysal, B., Jann, J., Marschall, T., Nowak, D., Bourquin, J., Kulozik, A., Dietrich, S., Bornhauser, B., Sanders, A., Korbel, J.

المصدر: Nature Biotechnology

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/EC/H2020/773026; info:eu-repo/grantAgreement/EC/FP7/336045; http://hdl.handle.net/21.11116/0000-000C-0012-FTest; http://hdl.handle.net/21.11116/0000-000C-0014Test-D

الإتاحة: https://doi.org/10.1038/s41587-022-01551-4Test
http://hdl.handle.net/21.11116/0000-000C-0012-FTest
http://hdl.handle.net/21.11116/0000-000C-0014Test-D

المؤلفون: Jarvis, E.D., Formenti, G., Rhie, A., Guarracino, A., Yang, C., Wood, J., Tracey, A., Thibaud-Nissen, F., Vollger, M.R., Porubsky, D., Cheng, H., Asri, M., Logsdon, G.A., Carnevali, P., Chaisson, M.J.P., Chin, C.S., Cody, S., Collins, J., Ebert, P., Escalona, M., Fedrigo, O., Fulton, R.S., Fulton, L.L., Garg, S., Gerton, J.L., Ghurye, J., Granat, A., Green, R.E., Harvey, W., Hasenfeld, P., Hastie, A., Haukness, M., Jaeger, E.B., Jain, M., Kirsche, M., Kolmogorov, M., Korbel, J.O., Koren, S., Korlach, J., Lee, J., Li, D., Lindsay, T., Lucas, J., Luo, F., Marschall, T., Mitchell, M.W., McDaniel, J., Nie, F., Olsen, H.E., Olson, N.D., Pesout, T., Potapova, T., Puiu, D., Regier, A., Ruan, J., Salzberg, S.L., Sanders, A.D., Schatz, M.C., Schmitt, A., Schneider, V.A., Selvaraj, S., Shafin, K., Shumate, A., Stitziel, N.O., Stober, C., Torrance, J., Wagner, J., Wang, J., Wenger, A., Xiao, C., Zimin, A.V., Zhang, G., Wang, T., Li, H., Garrison, E., Haussler, D., Hall, I., Zook, J.M., Eichler, E.E., Phillippy, A.M., Paten, B., Howe, K., Miga, K.H.

مصطلحات موضوعية: Cancer Research, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/22197/1/22197oa.pdfTest; http://edoc.mdc-berlin.de/22197/2/22197suppl.zipTest; Semi-automated assembly of high-quality diploid human reference genomes. Jarvis, E.D. and Formenti, G. and Rhie, A. and Guarracino, A. and Yang, C. and Wood, J. and Tracey, A. and Thibaud-Nissen, F. and Vollger, M.R. and Porubsky, D. and Cheng, H. and Asri, M. and Logsdon, G.A. and Carnevali, P. and Chaisson, M.J.P. and Chin, C.S. and Cody, S. and Collins, J. and Ebert, P. and Escalona, M. and Fedrigo, O. and Fulton, R.S. and Fulton, L.L. and Garg, S. and Gerton, J.L. and Ghurye, J. and Granat, A. and Green, R.E. and Harvey, W. and Hasenfeld, P. and Hastie, A. and Haukness, M. and Jaeger, E.B. and Jain, M. and Kirsche, M. and Kolmogorov, M. and Korbel, J.O. and Koren, S. and Korlach, J. and Lee, J. and Li, D. and Lindsay, T. and Lucas, J. and Luo, F. and Marschall, T. and Mitchell, M.W. and McDaniel, J. and Nie, F. and Olsen, H.E. and Olson, N.D. and Pesout, T. and Potapova, T. and Puiu, D. and Regier, A. and Ruan, J. and Salzberg, S.L. and Sanders, A.D. and Schatz, M.C. and Schmitt, A. and Schneider, V.A. and Selvaraj, S. and Shafin, K. and Shumate, A. and Stitziel, N.O. and Stober, C. and Torrance, J. and Wagner, J. and Wang, J. and Wenger, A. and Xiao, C. and Zimin, A.V. and Zhang, G. and Wang, T. and Li, H. and Garrison, E. and Haussler, D. and Hall, I. and Zook, J.M. and Eichler, E.E. and Phillippy, A.M. and Paten, B. and Howe, K. and Miga, K.H. Nature 611 (7936): 519-531. 17 November 2022

الإتاحة: https://doi.org/10.1038/s41586-022-05325-5Test
http://edoc.mdc-berlin.de/22197Test/
https://edoc.mdc-berlin.de/22197Test/
http://edoc.mdc-berlin.de/22197/1/22197oa.pdfTest
http://edoc.mdc-berlin.de/22197/2/22197suppl.zipTest

المؤلفون: Porubsky, D., Höps, W., Ashraf, H., Hsieh, P.H., Rodriguez-Martin, B., Yilmaz, F., Ebler, J., Hallast, P., Maggiolini, F.A.M., Harvey, W.T., Henning, B., Audano, P.A., Gordon, D.S., Ebert, P., Hasenfeld, P., Benito, E., Zhu, Q., Lee, C., Antonacci, F., Steinrücken, M., Beck, C.R., Sanders, A.D., Marschall, T., Eichler, E.E., Korbel, J.O.

مصطلحات موضوعية: Cancer Research, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/21606/1/21606oa.pdfTest; http://edoc.mdc-berlin.de/21606/2/21606suppl.zipTest; Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders. Porubsky, D. and Höps, W. and Ashraf, H. and Hsieh, P.H. and Rodriguez-Martin, B. and Yilmaz, F. and Ebler, J. and Hallast, P. and Maggiolini, F.A.M. and Harvey, W.T. and Henning, B. and Audano, P.A. and Gordon, D.S. and Ebert, P. and Hasenfeld, P. and Benito, E. and Zhu, Q. and Lee, C. and Antonacci, F. and Steinrücken, M. and Beck, C.R. and Sanders, A.D. and Marschall, T. and Eichler, E.E. and Korbel, J.O. Cell 185 (11): 1986-2005. 26 May 2022

الإتاحة: https://doi.org/10.1016/j.cell.2022.04.017Test
http://edoc.mdc-berlin.de/21606Test/
https://edoc.mdc-berlin.de/21606Test/
http://edoc.mdc-berlin.de/21606/1/21606oa.pdfTest
http://edoc.mdc-berlin.de/21606/2/21606suppl.zipTest

المؤلفون: Porubsky, D., Ebert, P., Audano, P., Vollger, M., Harvey, W., Marijon, P., Ebler, J., Munson, K., Sorensen, M., Sulovari, A., Haukness, M., Ghareghani, M., Lansdorp, P., Paten, B., Devine, S., Sanders, A., Lee, C., Chaisson, M., Korbel, J., Eichler, E., Marschall, T.

المساهمون: Human Genome Structural Variation Consortium

المصدر: Nature Biotechnology

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-0007-A6D4-ETest; http://hdl.handle.net/21.11116/0000-0007-A6D6-CTest

الإتاحة: https://doi.org/10.1038/s41587-020-0719-5Test
http://hdl.handle.net/21.11116/0000-0007-A6D4-ETest
http://hdl.handle.net/21.11116/0000-0007-A6D6-CTest

المؤلفون: Paparella A., L'Abbate A., Palmisano D., Chirico G., Porubsky D., Catacchio C. R., Ventura M., Eichler E. E., Maggiolini F. A. M., Antonacci F.

المساهمون: Paparella, A., L'Abbate, A., Palmisano, D., Chirico, G., Porubsky, D., Catacchio, C. R., Ventura, M., Eichler, E. E., Maggiolini, F. A. M., Antonacci, F.

مصطلحات موضوعية: copy number variant, core duplicon, evolution, inversion, segmental duplications

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37958807; info:eu-repo/semantics/altIdentifier/wos/WOS:001099362300001; volume:24; issue:21; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11586/465015Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85176434981

الإتاحة: https://doi.org/10.3390/ijms242115818Test
https://hdl.handle.net/11586/465015Test