Complex genetic variation in nearly complete human genomes

Glennis A. Logsdon; Peter Ebert; Peter A. Audano; Mark Loftus; David Porubsky; Jana Ebler; Feyza Yilmaz; Pille Hallast; Timofey Prodanov; Dong Ahn Yoo; Carolyn A. Paisie; William T. Harvey; Xuefang Zhao; Gianni V. Martino; Mir Henglin; Katherine M. Munson; Keon Rabbani; Chen Shan Chin; Bida Gu; Hufsah Ashraf; Stephan Scholz; Olanrewaju Austine-Orimoloye; Parithi Balachandran; Marc Jan Bonder; Haoyu Cheng; Zechen Chong; Jonathan Crabtree; Mark Gerstein; Lisbeth A. Guethlein; Patrick Hasenfeld; Glenn Hickey; Kendra Hoekzema; Sarah E. Hunt; Matthew Jensen; Yunzhe Jiang; Sergey Koren; Youngjun Kwon; Chong Li; Heng Li; Jiaqi Li; Paul J. Norman; Keisuke K. Oshima; Benedict Paten; Adam M. Phillippy; Nicholas R. Pollock; Tobias Rausch; Mikko Rautiainen; Yuwei Song; Arda Söylev; Arvis Sulovari; Likhitha Surapaneni; Vasiliki Tsapalou; Weichen Zhou; Ying Zhou; Qihui Zhu; Michael C. Zody; Ryan E. Mills; Scott E. Devine; Xinghua Shi; Michael E. Talkowski; Mark J.P. Chaisson; Alexander T. Dilthey; Miriam K. Konkel; Jan O. Korbel; Charles Lee; Christine R. Beck; Evan E. Eichler; Tobias Marschall

doi:10.1038/s41586-025-09140-6

Complex genetic variation in nearly complete human genomes

Glennis A. Logsdon, Peter Ebert, Peter A. Audano, Mark Loftus, David Porubsky, Jana Ebler, Feyza Yilmaz, Pille Hallast, Timofey Prodanov, Dong Ahn Yoo, Carolyn A. Paisie, William T. Harvey, Xuefang Zhao, Gianni V. Martino, Mir Henglin, Katherine M. Munson, Keon Rabbani, Chen Shan Chin, Bida Gu, Hufsah AshrafStephan Scholz, Olanrewaju Austine-Orimoloye, Parithi Balachandran, Marc Jan Bonder, Haoyu Cheng, Zechen Chong, Jonathan Crabtree, Mark Gerstein, Lisbeth A. Guethlein, Patrick Hasenfeld, Glenn Hickey, Kendra Hoekzema, Sarah E. Hunt, Matthew Jensen, Yunzhe Jiang, Sergey Koren, Youngjun Kwon, Chong Li, Heng Li, Jiaqi Li, Paul J. Norman, Keisuke K. Oshima, Benedict Paten, Adam M. Phillippy, Nicholas R. Pollock, Tobias Rausch, Mikko Rautiainen, Yuwei Song, Arda Söylev, Arvis Sulovari, Likhitha Surapaneni, Vasiliki Tsapalou, Weichen Zhou, Ying Zhou, Qihui Zhu, Michael C. Zody, Ryan E. Mills, Scott E. Devine, Xinghua Shi, Michael E. Talkowski, Mark J.P. Chaisson, Alexander T. Dilthey, Miriam K. Konkel, Jan O. Korbel, Charles Lee, Christine R. Beck, Evan E. Eichler, Tobias Marschall

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	Nature
Vuosikerta	644
Numero	8076
Sivut	430-441
Sivumäärä	26
ISSN	0028-0836
DOI - pysyväislinkit	https://doi.org/10.1038/s41586-025-09140-6
Tila	Julkaistu - 1 elok. 2025
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Lisätietoja

Publisher Copyright:
© The Author(s) 2025.

Tieteenalat

3111 Biolääketieteet
1184 Genetiikka, kehitysbiologia, fysiologia

Pääsy asiakirjaan

10.1038/s41586-025-09140-6

s41586-025-09140-6 (2)Lopullinen julkaistu versio, 21,1 MBLisenssi: CC BY
Author Correction_ Complex genetic variation in nearly complete human genomesLopullinen julkaistu versio, 574 KBLisenssi: CC BY

Muut tiedostot ja linkit

Link to publication in Scopus

Siteeraa tätä

Logsdon, G. A., Ebert, P., Audano, P. A., Loftus, M., Porubsky, D., Ebler, J., Yilmaz, F., Hallast, P., Prodanov, T., Yoo, D. A., Paisie, C. A., Harvey, W. T., Zhao, X., Martino, G. V., Henglin, M., Munson, K. M., Rabbani, K., Chin, C. S., Gu, B., ... Marschall, T. (2025). Complex genetic variation in nearly complete human genomes. Nature, 644(8076), 430-441 . https://doi.org/10.1038/s41586-025-09140-6

@article{9effcf0080564d78b76f22bc2971927c,

title = "Complex genetic variation in nearly complete human genomes",

keywords = "3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Logsdon, \{Glennis A.\} and Peter Ebert and Audano, \{Peter A.\} and Mark Loftus and David Porubsky and Jana Ebler and Feyza Yilmaz and Pille Hallast and Timofey Prodanov and Yoo, \{Dong Ahn\} and Paisie, \{Carolyn A.\} and Harvey, \{William T.\} and Xuefang Zhao and Martino, \{Gianni V.\} and Mir Henglin and Munson, \{Katherine M.\} and Keon Rabbani and Chin, \{Chen Shan\} and Bida Gu and Hufsah Ashraf and Stephan Scholz and Olanrewaju Austine-Orimoloye and Parithi Balachandran and Bonder, \{Marc Jan\} and Haoyu Cheng and Zechen Chong and Jonathan Crabtree and Mark Gerstein and Guethlein, \{Lisbeth A.\} and Patrick Hasenfeld and Glenn Hickey and Kendra Hoekzema and Hunt, \{Sarah E.\} and Matthew Jensen and Yunzhe Jiang and Sergey Koren and Youngjun Kwon and Chong Li and Heng Li and Jiaqi Li and Norman, \{Paul J.\} and Oshima, \{Keisuke K.\} and Benedict Paten and Phillippy, \{Adam M.\} and Pollock, \{Nicholas R.\} and Tobias Rausch and Mikko Rautiainen and Yuwei Song and Arda S{\"o}ylev and Arvis Sulovari and Likhitha Surapaneni and Vasiliki Tsapalou and Weichen Zhou and Ying Zhou and Qihui Zhu and Zody, \{Michael C.\} and Mills, \{Ryan E.\} and Devine, \{Scott E.\} and Xinghua Shi and Talkowski, \{Michael E.\} and Chaisson, \{Mark J.P.\} and Dilthey, \{Alexander T.\} and Konkel, \{Miriam K.\} and Korbel, \{Jan O.\} and Charles Lee and Beck, \{Christine R.\} and Eichler, \{Evan E.\} and Tobias Marschall",

note = "Correction DOI: 10.1038/s41586-025-09547-1 Publisher Copyright: {\textcopyright} The Author(s) 2025.",

year = "2025",

month = aug,

day = "1",

doi = "10.1038/s41586-025-09140-6",

language = "English",

volume = "644",

pages = "430--441 ",

journal = "Nature",

issn = "0028-0836",

publisher = "Nature Research ",

number = "8076",

}

Logsdon, GA, Ebert, P, Audano, PA, Loftus, M, Porubsky, D, Ebler, J, Yilmaz, F, Hallast, P, Prodanov, T, Yoo, DA, Paisie, CA, Harvey, WT, Zhao, X, Martino, GV, Henglin, M, Munson, KM, Rabbani, K, Chin, CS, Gu, B, Ashraf, H, Scholz, S, Austine-Orimoloye, O, Balachandran, P, Bonder, MJ, Cheng, H, Chong, Z, Crabtree, J, Gerstein, M, Guethlein, LA, Hasenfeld, P, Hickey, G, Hoekzema, K, Hunt, SE, Jensen, M, Jiang, Y, Koren, S, Kwon, Y, Li, C, Li, H, Li, J, Norman, PJ, Oshima, KK, Paten, B, Phillippy, AM, Pollock, NR, Rausch, T, Rautiainen, M, Song, Y, Söylev, A, Sulovari, A, Surapaneni, L, Tsapalou, V, Zhou, W, Zhou, Y, Zhu, Q, Zody, MC, Mills, RE, Devine, SE, Shi, X, Talkowski, ME, Chaisson, MJP, Dilthey, AT, Konkel, MK, Korbel, JO, Lee, C, Beck, CR, Eichler, EE & Marschall, T 2025, 'Complex genetic variation in nearly complete human genomes', Nature, Vuosikerta 644, Nro 8076, Sivut 430-441 . https://doi.org/10.1038/s41586-025-09140-6

TY - JOUR

T1 - Complex genetic variation in nearly complete human genomes

AU - Logsdon, Glennis A.

AU - Ebert, Peter

AU - Audano, Peter A.

AU - Loftus, Mark

AU - Porubsky, David

AU - Ebler, Jana

AU - Yilmaz, Feyza

AU - Hallast, Pille

AU - Prodanov, Timofey

AU - Yoo, Dong Ahn

AU - Paisie, Carolyn A.

AU - Harvey, William T.

AU - Zhao, Xuefang

AU - Martino, Gianni V.

AU - Henglin, Mir

AU - Munson, Katherine M.

AU - Rabbani, Keon

AU - Chin, Chen Shan

AU - Gu, Bida

AU - Ashraf, Hufsah

AU - Scholz, Stephan

AU - Austine-Orimoloye, Olanrewaju

AU - Balachandran, Parithi

AU - Bonder, Marc Jan

AU - Cheng, Haoyu

AU - Chong, Zechen

AU - Crabtree, Jonathan

AU - Gerstein, Mark

AU - Guethlein, Lisbeth A.

AU - Hasenfeld, Patrick

AU - Hickey, Glenn

AU - Hoekzema, Kendra

AU - Hunt, Sarah E.

AU - Jensen, Matthew

AU - Jiang, Yunzhe

AU - Koren, Sergey

AU - Kwon, Youngjun

AU - Li, Chong

AU - Li, Heng

AU - Li, Jiaqi

AU - Norman, Paul J.

AU - Oshima, Keisuke K.

AU - Paten, Benedict

AU - Phillippy, Adam M.

AU - Pollock, Nicholas R.

AU - Rausch, Tobias

AU - Rautiainen, Mikko

AU - Song, Yuwei

AU - Söylev, Arda

AU - Sulovari, Arvis

AU - Surapaneni, Likhitha

AU - Tsapalou, Vasiliki

AU - Zhou, Weichen

AU - Zhou, Ying

AU - Zhu, Qihui

AU - Zody, Michael C.

AU - Mills, Ryan E.

AU - Devine, Scott E.

AU - Shi, Xinghua

AU - Talkowski, Michael E.

AU - Chaisson, Mark J.P.

AU - Dilthey, Alexander T.

AU - Konkel, Miriam K.

AU - Korbel, Jan O.

AU - Lee, Charles

AU - Beck, Christine R.

AU - Eichler, Evan E.

AU - Marschall, Tobias

PY - 2025/8/1

Y1 - 2025/8/1

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

UR - https://www.scopus.com/pages/publications/105011342429

U2 - 10.1038/s41586-025-09140-6

DO - 10.1038/s41586-025-09140-6

M3 - Article

C2 - 40702183

AN - SCOPUS:105011342429

SN - 0028-0836

VL - 644

SP - 430

EP - 441

JO - Nature

JF - Nature

IS - 8076

ER -