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

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

Correction: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

更正:开发并广泛测序了经广泛认可的“瓶中基因组”匹配的肿瘤-正常样本对

McDaniel, Jennifer H; Patel, Vaidehi; Olson, Nathan D; He, Hua-Jun; He, Zhiyong; Cole, Kenneth D; Gooden, Alexander A; Schmitt, Anthony; Sikkink, Kristin; Sedlazeck, Fritz J; Doddapaneni, Harsha; Jhangiani, Shalini N; Muzny, Donna M; Gingras, Marie-Claude; Mehta, Heer; Behera, Sairam; Paulin, Luis F; Hastie, Alex R; Yu, Hung-Chun; Weigman, Victor; Rojas, Alison; Kennedy, Katie; Remington, Jamie; Salas-González, Isai; Sudkamp, Mitch; Wiseman, Kelly; Lajoie, Bryan R; Levy, Shawn; Jain, Miten; Akeson, Stuart; Narzisi, Giuseppe; Steinsnyder, Zoe; Reeves, Catherine; Shelton, Jennifer; Kingan, Sarah B; Lambert, Christine; Baybayan, Primo; Wenger, Aaron M; McLaughlin, Ian J; Adamson, Aaron; Kingsley, Christopher; Wescott, Melanie; Kim, Young; Paten, Benedict; Park, Jimin; Violich, Ivo; Miga, Karen H; Gardner, Joshua; McNulty, Brandy; Rosen, Gail L; McCoy, Rajiv; Brundu, Francesco; Sayyari, Erfan; Scheffler, Konrad; Truong, Sean; Catreux, Severine; Hannah, Lesley Chapman; Lipson, Doron; Benjamin, Hila; Iremadze, Nika; Soifer, Ilya; Krieger, Gat; Eacker, Stephen; Wood, Mary; Cross, Erin; Husar, Greg; Gross, Stephen; Vernich, Michael; Kolmogorov, Mikhail; Ahmad, Tanveer; Keskus, Ayse G; Bryant, Asher; Thibaud-Nissen, Francoise; Trow, Jonathan; Proszynski, Jacqueline; Hirschberg, Jeremy Wain; Ryon, Krista; Mason, Christopher E; Bhakta, Mital S; Sanborn, J Zachary; Munding, Elizabeth M; Wagner, Justin; Xiao, Chunlin; Liss, Andrew S; Zook, Justin M

Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases

长读长靶向测序揭示了C9orf72相关疾病的临床病理关联

DeJesus-Hernandez, Mariely; Aleff, Ross A; Jackson, Jazmyne L; Finch, NiCole A; Baker, Matthew C; Gendron, Tania F; Murray, Melissa E; McLaughlin, Ian J; Harting, John R; Graff-Radford, Neill R; Oskarsson, Björn; Knopman, David S; Josephs, Keith A; Boeve, Bradley F; Petersen, Ronald C; Fryer, John D; Petrucelli, Leonard; Dickson, Dennis W; Rademakers, Rosa; Ebbert, Mark T W; Wieben, Eric D; van Blitterswijk, Marka

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease

C9orf72“GGGGCC”重复序列扩增的长读长测序:对人类疾病临床应用和基因发现工作的意义

Ebbert, Mark T W; Farrugia, Stefan L; Sens, Jonathon P; Jansen-West, Karen; Gendron, Tania F; Prudencio, Mercedes; McLaughlin, Ian J; Bowman, Brett; Seetin, Matthew; DeJesus-Hernandez, Mariely; Jackson, Jazmyne; Brown, Patricia H; Dickson, Dennis W; van Blitterswijk, Marka; Rademakers, Rosa; Petrucelli, Leonard; Fryer, John D