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

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

Native yeast kinetochore structures identify an essential inner kinetochore interaction

天然酵母动粒结构揭示了一种重要的动粒内部相互作用

Jiang, Mengqiu; Hu, Changkun; Hedouin, Sabrine; Latino, Angelica Andrade; Arimura, Yasuhiro; Stergachis, Andrew B; Biggins, Sue

Validation of the Madrid Genotype Score to Predict Pathogenic Variants in U.S. Dilated Cardiomyopathy Patients

验证马德里基因型评分预测美国扩张型心肌病患者致病变异的能力

Resnick, Rebecca; Kao, Eric Y; Maynard, Charles; Tabaghi, Shiva; Stergachis, Andrew B; Nazer, Babak; Yang, Kai-Chun Daniel

Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions

供体特异性组装可增强复杂基因组区域中体细胞结构变异的检测

Mack, Taralynn; Lin, Jiadong; Ren, Luyao; Sohn, Min-Hwan; Minkina, Anna; Kwon, Youngjun; Yoo, DongAhn; Sui, Yang; Munson, Katherine M; Hoekzema, Kendra; Mastrorosa, F Kumara; Sorensen, Melanie; Ayllon, Marcelo; Sun, Kaitlyn A; Koundiya, Nidhi; Ou, Jeffrey; Noyes, Michelle D; Sedeño-Cortés, Adriana; Leonardson, Amy; Jacques, Caitlin N; Oliviera, Chris; Frazar, Christian D; Zakarian, Christina; Jensen, Dana M; Swanson, Elliot G; Ryke, Erica; Kolar, J Thomas; Ranchalis, Jane; Sutherlin, Lila; Vollger, Mitchell R; Loy, Kelsey; Pham, Meranda M; Huang, Meng-Fan; Au, Natalie Yt; Nielsen, Patrick M; McGee, Sean R; Neph, Shane; Bohaczuk, Stephanie; Shaffer, Tristan; Freeman, Vea; Mao, Yizi; Stillman, Benjamin Cohen; Richardson, Matthew; Smith, Joshua D; Weiss, Jeffrey M; Parmalee, Nancy L; Wei, Chia-Lin; Bennett, James T; Stergachis, Andrew B; Eichler, Evan E

A scalable approach to resolving variants of uncertain significance

一种解决意义不确定变异的可扩展方法

Tejura, Malvika; Chen, Yile; McEwen, Abbye E; Stewart, Ross; Sverchkov, Yuriy; Laval, Florent; Woo, Ivan; Zeiberg, Daniel; Shen, Runxi; Fayer, Shawn; Stone, Jeremy; Smith, Nahum; Casadei, Silvia; Wang, Ziyu R; Snyder, Matthew W; Capodanno, Benjamin J; Gupta, Pankhuri; Benazouz, Mariam; Jain, Shantanu; Heidl, Sarah; Muffley, Lara; Dong, Shengcheng; Hitz, Benjamin C; Gabdank, Idan; Lin, Khine; Da, Estelle Y; Best, Sabrina; Grindstaff, Sally; Reinhart, David; Rodriguez-Salas, Leslie; Seid, Obsa; Vandi, Allyssa J; Wenman, Cameron; Wheelock, Melinda K; Pendyala, Sriram; Holmes, Dan; Xu, Alicia; Hosokai, Airi; Tixhon, Maxime; Reno, Chloe; Ewald, Jessica D; Spirohn-Fitzgerald, Kerstin; Teelucksingh, Tanisha; Hao, Tong; Chen, Zitong S; Haghighi, Marzieh; Hamid, Ahmad Kamal; Miglietta, Esteban A; Weisbart, Erin; Coppin, Georges; Lambourne, Luke; Gebbia, Marinella; Coté, Atina G; van Loggerenberg, Warren; Fawcett, Kirby M; Steiner, Robert D; Johnsen, Jill M; Stergachis, Andrew B; Iakoucheva, Lilia M; Singh, Shantanu; Cimini, Beth A; Roth, Frederick P; James, Richard G; Vidal, Marc; Taipale, Mikko; Carpenter, Anne E; Calderwood, Michael A; Craven, Mark; Pejaver, Vikas; Rubin, Alan F; Radivojac, Predrag; Fowler, Douglas M; Starita, Lea M

The Somatic Mosaicism across Human Tissues Network

人体组织中的体细胞镶嵌网络

Coorens, Tim H H; Oh, Ji Won; Choi, Yujin Angelina; Lim, Nam Seop; Zhao, Boxun; Voshall, Adam; Abyzov, Alexej; Antonacci-Fulton, Lucinda; Aparicio, Samuel; Ardlie, Kristin G; Bell, Thomas J; Bennett, James T; Bernstein, Bradley E; Blanchard, Thomas G; Boyle, Alan P; Buenrostro, Jason D; Burns, Kathleen H; Chen, Fei; Chen, Rui; Choudhury, Sangita; Doddapaneni, Harsha V; Eichler, Evan E; Evrony, Gilad D; Faith, Melissa A; Fazzio, Thomas G; Fulton, Robert S; Garber, Manuel; Gehlenborg, Nils; Germer, Soren; Getz, Gad; Gibbs, Richard A; Hernandez, Raquel G; Jin, Fulai; Korbel, Jan O; Landau, Dan A; Lawson, Heather A; Lennon, Niall J; Li, Heng; Li, Yan; Loh, Po-Ru; Marth, Gabor; McConnell, Michael J; Mills, Ryan E; Montgomery, Stephen B; Natarajan, Pradeep; Park, Peter J; Satija, Rahul; Sedlazeck, Fritz J; Shao, Diane D; Shen, Hui; Stergachis, Andrew B; Underhill, Hunter R; Urban, Alexander E; VonDran, Melissa W; Walsh, Christopher A; Wang, Ting; Wu, Tao P; Zong, Chenghang; Lee, Eunjung Alice; Vaccarino, Flora M

Mapping single-cell diploid chromatin fiber architectures using DAF-seq

利用DAF-seq技术绘制单细胞二倍体染色质纤维结构图谱

Swanson, Elliott G; Mao, Yizi; Mallory, Benjamin J; Vollger, Mitchell R; Bohaczuk, Stephanie C; Oliveira, Christopher B; Lyon, Daniel B; Ranchalis, Jane; Parmalee, Nancy L; Cohen, Barak A; Bennett, James T; Stergachis, Andrew B

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

同步长读长基因组、甲基化组、表观基因组和转录组分析揭示了孟德尔遗传病的成因

Vollger Mitchell R, Korlach Jonas, Eldred Kiara C, Swanson Elliott, Underwood Jason G, Bohaczuk Stephanie C, Mao Yizi, Cheng Yong-Han H, Ranchalis Jane, Blue Elizabeth E, Schwarze Ulrike, Munson Katherine M, Saunders Christopher T, Wenger Aaron M, Allworth Aimee, Chanprasert Sirisak, Duerden Brittney L, Glass Ian, Horike-Pyne Martha, Kim Michelle, Leppig Kathleen A, McLaughlin Ian J, Ogawa Jessica, Rosenthal Elisabeth A, Sheppeard Sam, Sherman Stephanie M, Strohbehn Samuel, Yuen Amy L, Stacey Andrew W, Reh Thomas A, Byers Peter H, Bamshad Michael J, Hisama Fuki M, Jarvik Gail P, Sancak Yasemin, Dipple Katrina M, Stergachis Andrew B

Conservation of dichromatin organization along regional centromeres.

沿区域着丝粒的二染色质组织结构保守性

Dubocanin Danilo, Hartley Gabrielle A, Sedeño Cortés Adriana E, Mao Yizi, Hedouin Sabrine, Ranchalis Jane, Agarwal Aman, Logsdon Glennis A, Munson Katherine M, Real Taylor, Mallory Benjamin J, Eichler Evan E, Biggins Sue, O'Neill Rachel J, Stergachis Andrew B

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation

深入探讨如何提高功能数据的可访问性和可用性,从而释放其在变异解读方面的潜力

Park, Min Seon; Kumar, Runjun D; Ovadiuc, Cristian; Folta, Andrew; McEwen, Abbye E; Snyder, Ashley; Villani, Rehan M; Spurdle, Amanda B; Fowler, Douglas M; Rubin, Alan F; Shirts, Brian H; Starita, Lea M; Stergachis, Andrew B