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

Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA

对家族进行长读长测序揭示重复DNA中种系和合子后突变率增加

Noyes, Michelle D; Sui, Yang; Kwon, Youngjun; Koundinya, Nidhi; Wong, Isaac; Munson, Katherine M; Hoekzema, Kendra; Kordosky, Jennifer; Garcia, Gage H; Knuth, Jordan; Lewis, Alexandra P; Eichler, Evan E

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

Using the linear references from the pangenome to discover missing autism variants.

利用泛基因组的线性参考序列来发现缺失的自闭症变异。

Sui Yang, Lin Jiadong, Noyes Michelle D, Kwon Youngjun, Wong Isaac, Koundinya Nidhi, Harvey William T, Wu Mei, Hoekzema Kendra, Munson Katherine M, Garcia Gage H, Knuth Jordan, Wertz Julie, Wang Tianyun, Hennick Kelsey, Karunakaran Druha, Polo Prieto Rafael A, Meyer-Schuman Rebecca, Cherry Fisher, Pehlivan Davut, Suter Bernhard, Gustafson Jonas A, Miller Danny E, Berk-Rauch Hanna, Nowakowski Tomasz J, Chakravarti Aravinda, Zoghbi Huda Y, Eichler Evan E

Epigenetic and evolutionary features of ape subterminal heterochromatin

猿类亚末端异染色质的表观遗传和进化特征

Yoo, DongAhn; Munson, Katherine M; Eichler, Evan E

Impact of Tau overexpression on DNA replication dynamics in centromeres of human neural progenitor cells.

Tau 蛋白过表达对人类神经祖细胞着丝粒 DNA 复制动力学的影响。

Balzano Elisa, Twayana Shyam, Kosiyatrakul Settapong T, Logsdon Glennis A, Thakur Bhushan L, Eichler Evan E, Bohl Bettina, Koch Philipp, Sidoli Simone, Kumari Anupama, Munson Katherine M, Hoekzema Kendra, Aladjem Mirit I, Schildkraut Carl L

Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequences

长读长MitoScope揭示了组织分辨的体细胞线粒体变异和核内嵌入线粒体序列的分布图谱

Zakarian, Christina; Smith, Joshua D; Wong, Chee Hong; Frazar, Christian D; Ryke, Erica; McGee, Sean R; Richardson, Matthew; Weiss, Jeffrey M; Munson, Katherine M; Hoekzema, Kendra; Mack, Taralynn; Kwon, Youngjun; Ou, Jeffrey; Neph, Shane; Sohn, Min-Hwan; Minkina, Anna; Bennett, James T; Stergachis, Andrew B; Eichler, Evan E; Wei, Chia-Lin

A segmental duplication-mediated deletion leads to neocentromere formation in orangutans

猩猩中,节段重复介导的缺失导致新着丝粒的形成。

de Gennaro, Luciana; Yoo, DongAhn; Pistacchia, Letizia; Magrone, Rosaria; Daponte, Alessia; Perrone, Francesco; Ravasini, Francesco; Mastrorosa, F Kumara; Oshima, Keisuke K; Polano, Cesare; Hoekzema, Kendra; Munson, Katherine M; Wertz, Julie; Marroni, Fabio; Catacchio, Claudia R; Antonacci, Francesca; Noordermeer, Daan; Montinaro, Francesco; Logsdon, Glennis A; Trombetta, Beniamino; Eichler, Evan E; Ventura, Mario

A Complete Genome for the Common Marmoset

普通狨猴的完整基因组

Hebbar, Prajna; Potapova, Tamara; Loucks, Hailey; Ray, Karina; Rodrigues, Murillo F; Ryabov, Fedor; Malukiewicz, Joanna; Yoo, DongAhn; de Lima, Leonardo; Haber, Annat; Kumar, Sonal; Banerjee, Swati; Borchers, Matthew; Garcia, Gage H; Gardner, Joshua; Hachem, Stephanie; Heath, Harrison; Ha, Seung Kwon; Mastoras, Mira; McNulty, Brandy; Menendez, Julian; Munson, Katherine M; Pal, Karol; Park, JungEun; Ploesch, Simon; Roos, Christian; Seligmann, William E; Shepelev, Valery; Spruce, Catrina; Violich, Ivo; Walter, Lutz; Makova, Kateryna D; Thathiah, Amantha; Rizzo, Stacey J Sukoff; Silva, Afonso C; Carter, Gregory W; Miga, Karen H; Eichler, Evan E; Conrad, Donald F; Gerton, Jennifer L; Alexandrov, Ivan; Paten, Benedict

A family portrait of the genomic factors shaping tandem repeat mutagenesis

串联重复突变发生的基因组因素家族图景

Sasani, Thomas A; Goldberg, Michael E; Avvaru, Akshay K; Nicholas, Thomas J; Neklason, Deborah W; Dolzhenko, Egor; Mokveld, Tom; Munson, Katherine M; Hoekzema, Kendra; Ayllon, Marcelo; Kaufman, Eli J; Porubsky, David; Valdmanis, Paul N; Eichler, Evan E; Quinlan, Aaron R; Dashnow, Harriet

NPEPPS segmental duplication drives position effect expression of TBC1D3 in the human brain

NPEPPS 片段重复驱动人脑中 TBC1D3 的位置效应表达

Guitart, Xavi; Brunner, Jessie W; Ren, Luyao; Jeong, Hyeonsoo; Yoo, DongAhn; Porubsky, David; Hoekzema, Kendra; Munson, Katherine M; Sun, Kaitlyn A; Ayllon, Marcelo; Hoglin, Kaylynn; McMullen, Reed; Pavlovic, Bryan; Vollger, Mitchell R; Pollen, Alex A; Eichler, Evan E