日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Complex genetic variation in nearly complete human genomes

近乎完整的人类基因组中存在复杂的遗传变异

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

Author Correction: Complex genetic variation in nearly complete human genomes

作者更正:近乎完整的人类基因组中存在复杂的遗传变异

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

Standard Poster Abstracts for the 17th Asia Pacific Heart Rhythm Society (APHRS) Scientific Sessions

第十七届亚太心律学会(APHRS)科学会议标准海报摘要

Mao, Yafei; Harvey, William T; Porubsky, David; Munson, Katherine M; Hoekzema, Kendra; Lewis, Alexandra P; Audano, Peter A; Rozanski, Allison; Yang, Xiangyu; Zhang, Shilong; Yoo, DongAhn; Gordon, David S; Fair, Tyler; Wei, Xiaoxi; Logsdon, Glennis A; Haukness, Marina; Dishuck, Philip C; Jeong, Hyeonsoo; Del Rosario, Ricardo; Bauer, Vanessa L; Fattor, Will T; Wilkerson, Gregory K; Mao, Yuxiang; Shi, Yongyong; Sun, Qiang; Lu, Qing; Paten, Benedict; Bakken, Trygve E; Pollen, Alex A; Feng, Guoping; Sawyer, Sara L; Warren, Wesley C; Carbone, Lucia; Eichler, Evan E

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

携带新生 PAK2 变异的个体出现 Knobloch 综合征 2 型的表型扩展

Werren Elizabeth A, Kalsner Louisa, Ewald Jessica M, Peracchio Michael, King Cameron, Vats Purva, Audano Peter A, Robinson Peter N, Adams Mark D, Kelly Melissa A, Matson Adam P

Segmental duplication-mediated rearrangements alter the landscape of mouse genomes

片段重复介导的重排改变了小鼠基因组的格局

Francoeur, Eden R; Audano, Peter A; Ferraj, Ardian; Balachandran, Parithi; Beck, Christine R

Small polymorphisms are a source of ancestral bias in structural variant breakpoint placement

小的多态性是结构变异断点位置祖先偏倚的来源。

Audano, Peter A; Beck, Christine R

Structurally divergent and recurrently mutated regions of primate genomes

灵长类动物基因组中结构差异显著且反复发生突变的区域

Mao, Yafei; Harvey, William T; Porubsky, David; Munson, Katherine M; Hoekzema, Kendra; Lewis, Alexandra P; Audano, Peter A; Rozanski, Allison; Yang, Xiangyu; Zhang, Shilong; Gordon, David S; Wei, Xiaoxi; Logsdon, Glennis A; Haukness, Marina; Dishuck, Philip C; Jeong, Hyeonsoo; Del Rosario, Ricardo; Bauer, Vanessa L; Fattor, Will T; Wilkerson, Gregory K; Lu, Qing; Paten, Benedict; Feng, Guoping; Sawyer, Sara L; Warren, Wesley C; Carbone, Lucia; Eichler, Evan E

Small allelic variants are a source of ancestral bias in structural variant breakpoint placement

小的等位基因变异是结构变异断点位置祖先偏倚的来源。

Audano, Peter A; Beck, Christine R

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

基于泛基因组的基因组推断能够对多种变异类型进行高效、准确的基因分型。

Ebler, Jana; Ebert, Peter; Clarke, Wayne E; Rausch, Tobias; Audano, Peter A; Houwaart, Torsten; Mao, Yafei; Korbel, Jan O; Eichler, Evan E; Zody, Michael C; Dilthey, Alexander T; Marschall, Tobias

Familial long-read sequencing increases yield of de novo mutations.

家族长读长测序可提高新发突变的检出率

Noyes Michelle D, Harvey William T, Porubsky David, Sulovari Arvis, Li Ruiyang, Rose Nicholas R, Audano Peter A, Munson Katherine M, Lewis Alexandra P, Hoekzema Kendra, Mantere Tuomo, Graves-Lindsay Tina A, Sanders Ashley D, Goodwin Sara, Kramer Melissa, Mokrab Younes, Zody Michael C, Hoischen Alexander, Korbel Jan O, McCombie W Richard, Eichler Evan E