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

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

22q11.2染色体重复结构的群体差异导致其对微缺失和倒位的易感性不同。

Porubsky, David; Yoo, DongAhn; Koundinya, Nidhi; Souche, Erika; Dishuck, Philip C; Dierckxsens, Nicolas; Harvey, William T; Munson, Katherine M; Hoekzema, Kendra; Chan, Daniel D; Leung, Tiffany Y; Santos, Marta S; Meynants, Senne; Swillen, Ann; Breckpot, Jeroen; Tsapalou, Vasiliki; Hasenfeld, Patrick; Korbel, Jan O; Lansdorp, Peter M; Vermeesch, Joris R; Eichler, Evan E

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

Structural variation, selection, and diversification of the NPIP gene family from the human pangenome

人类泛基因组中NPIP基因家族的结构变异、选择和多样化

Dishuck, Philip C; Munson, Katherine M; Lewis, Alexandra P; Dougherty, Max L; Underwood, Jason G; Harvey, William T; Hsieh, PingHsun; Pastinen, Tomi; Eichler, Evan E

Genetic diversity and regulatory features of human-specific NOTCH2NL duplications

人类特异性 NOTCH2NL 重复的遗传多样性和调控特征

Real, Taylor D; Hebbar, Prajna; Yoo, DongAhn; Antonacci, Francesca; Pačar, Ivana; Diekhans, Mark; Mikol, Gregory J; Popoola, Oyeronke G; Mallory, Benjamin J; Vollger, Mitchell R; Dishuck, Philip C; Guitart, Xavi; Rozanski, Allison N; Munson, Katherine M; Hoekzema, Kendra; Ranchalis, Jane E; Neph, Shane J; Sedeño-Cortes, Adriana E; Paten, Benedict; Salama, Sofie R; Stergachis, Andrew B; Eichler, Evan E

SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies

SVbyEye:一种用于表征全基因组组装结构变异的可视化工具

Porubsky, David; Guitart, Xavi; Yoo, DongAhn; Dishuck, Philip C; Harvey, William T; Eichler, Evan E

Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans

人类TBC1D3基因家族的独立扩增、选择和高度变异

Guitart, Xavi; Porubsky, David; Yoo, DongAhn; Dougherty, Max L; Dishuck, Philip C; Munson, Katherine M; Lewis, Alexandra P; Hoekzema, Kendra; Knuth, Jordan; Chang, Stephen; Pastinen, Tomi; Eichler, Evan E

AGAP duplicons associate with structural diversity at Chromosome 10q11.22

AGAP重复序列与10q11.22染色体上的结构多样性相关

Fornezza, Stefania; Delvecchio, Vincenza Simona; Harvey, William T; Dishuck, Philip C; Eichler, Evan E; Giannuzzi, Giuliana

Independent expansion, selection and hypervariability of the TBC1D3 gene family in humans

人类TBC1D3基因家族的独立扩增、选择和高度变异

Guitart, Xavi; Porubsky, David; Yoo, DongAhn; Dougherty, Max L; Dishuck, Philip C; Munson, Katherine M; Lewis, Alexandra P; Hoekzema, Kendra; Knuth, Jordan; Chang, Stephen; Pastinen, Tomi; Eichler, Evan E

Assembly of 43 human Y chromosomes reveals extensive complexity and variation

43 条人类 Y 染色体的组装揭示出广泛的复杂性和变异性

Pille Hallast #, Peter Ebert #, Mark Loftus #, Feyza Yilmaz, Peter A Audano, Glennis A Logsdon, Marc Jan Bonder, Weichen Zhou, Wolfram Höps, Kwondo Kim, Chong Li, Savannah J Hoyt, Philip C Dishuck, David Porubsky, Fotios Tsetsos, Jee Young Kwon, Qihui Zhu, Katherine M Munson, Patrick Hasenfeld, Will

Increased mutation and gene conversion within human segmental duplications

人类节段重复序列中突变和基因转换的增加

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