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

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

Population-scale Long-read Sequencing in the All of Us Research Program

“我们所有人”研究计划中的群体规模长读长测序

Garimella, Kiran V; Li, Qiuhui; Wertz, Julie; Lee, Samuel K; Cunial, Fabio; Huang, Yongqing; Mostovoy, Yulia; Lorig-Roach, Ryan; English, Adam; Su, Hang; Levy, Shawn; Muzny, Donna M; Berngruber, Chelsea; Danzi, Matt C; Harvey, William T; LaPlante, Emily L; Patterson, Karynne; Rozanski, Allison N; Schwartz, Sophie; Shifaw, Beri; Wang, Yuanyuan; Wong, Isaac; Xu, Isaac R L; Zaheri, Shadi; Zuchner, Stephan; Zheng, Xinchang; Dugan-Perez, Shannon; Izydorczyk, Michal; Mehta, Heer; Gibbs, Richard A; Lichtenstein, Lee; Gupta, Namrata; Lennon, Niall; Gabriel, Stacey; Timp, Winston; Doheny, Kimberly F; Dutka, Tara; Musick, Anjene; Wei, Chia-Lin; Sedlazeck, Fritz J; Schatz, Michael C; Talkowski, Michael E; Eichler, Evan E

Complete chromosome 21 centromere sequencing of families with Down syndrome reveals centromere size asymmetry.

对唐氏综合征家族进行 21 号染色体着丝粒全序列测定,结果显示着丝粒大小不对称。

Mastrorosa F Kumara, Daponte Alessia, Wertz Julie, Rozanski Allison N, Harvey William T, Porubsky David, Knuth Jordan, Garcia Gage H, Ayllon Marcelo, Munson Katherine M, Hoekzema Kendra, He Weiya, Sherman Stephanie L, Allen Emily G, Rosser Tracie C, Catacchio Claudia Rita, Ventura Mario, Logsdon Glennis A, Eichler Evan E

Identification and annotation of centromeric hypomethylated regions with CDR-Finder

利用 CDR-Finder 识别和注释着丝粒低甲基化区域

Mastrorosa, Francesco Kumara; Oshima, Keisuke K; Rozanski, Allison N; Harvey, William T; Eichler, Evan E; Logsdon, Glennis A

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

Inversion polymorphism in a complete human genome assembly.

人类基因组完整组装中的倒位多态性

Porubsky David, Harvey William T, Rozanski Allison N, Ebler Jana, Höps Wolfram, Ashraf Hufsah, Hasenfeld Patrick, Paten Benedict, Sanders Ashley D, Marschall Tobias, Korbel Jan O, Eichler Evan E

GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads

GAVISUNK:通过牛津纳米孔测序数据中SUNK间距离验证基因组组装

Dishuck, Philip C; Rozanski, Allison N; Logsdon, Glennis A; Porubsky, David; Eichler, Evan E