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

A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

小鼠结构变异数据库鉴定出一种自发性小鼠淋巴瘤模型的候选基因

Ren, Wenlong; Fang, Zhuoqing; Dolzhenko, Egor; Saunders, Christopher T; Cheng, Zhuanfen; Popic, Victoria; Peltz, Gary

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

Human de novo mutation rates from a four-generation pedigree reference

来自四代家系参考的人类新生突变率

David Porubsky ,Harriet Dashnow # ,Thomas A Sasani # ,Glennis A Logsdon # ,Pille Hallast # ,Michelle D Noyes # ,Zev N Kronenberg # ,Tom Mokveld # ,Nidhi Koundinya ,Cillian Nolan ,Cody J Steely ,Andrea Guarracino ,Egor Dolzhenko ,William T Harvey ,William J Rowell ,Kirill Grigorev ,Thomas J Nicholas ,Michael E Goldberg ,Keisuke K Oshima ,Jiadong Lin ,Peter Ebert ,W Scott Watkins ,Tiffany Y Leung ,Vincent C T Hanlon ,Sean McGee ,Brent S Pedersen ,Hannah C Happ ,Hyeonsoo Jeong ,Katherine M Munson ,Kendra Hoekzema ,Daniel D Chan ,Yanni Wang ,Jordan Knuth ,Gage H Garcia ,Cairbre Fanslow ,Christine Lambert ,Charles Lee ,Joshua D Smith ,Shawn Levy ,Christopher E Mason ,Erik Garrison ,Peter M Lansdorp ,Deborah W Neklason ,Lynn B Jorde ,Aaron R Quinlan ,Michael A Eberle ,Evan E Eichler

Analysis and benchmarking of small and large genomic variants across tandem repeats

对串联重复序列中大小基因组变异的分析和基准测试

English, Adam C; Dolzhenko, Egor; Ziaei Jam, Helyaneh; McKenzie, Sean K; Olson, Nathan D; De Coster, Wouter; Park, Jonghun; Gu, Bida; Wagner, Justin; Eberle, Michael A; Gymrek, Melissa; Chaisson, Mark J P; Zook, Justin M; Sedlazeck, Fritz J

The Platinum Pedigree: a long-read benchmark for genetic variants

白金谱系:基因变异的长读长基准

Kronenberg, Zev; Nolan, Cillian; Porubsky, David; Mokveld, Tom; Rowell, William J; Lee, Sangjin; Dolzhenko, Egor; Chang, Pi-Chuan; Holt, James M; Saunders, Christopher T; Olson, Nathan D; Steely, Cody J; McGee, Sean; Guarracino, Andrea; Koundinya, Nidhi; Harvey, William T; Watkins, W Scott; Munson, Katherine M; Hoekzema, Kendra; Chua, Khi Pin; Chen, Xiao; Fanslow, Cairbre; Lambert, Christine; Dashnow, Harriet; Garrison, Erik; Smith, Joshua D; Lansdorp, Peter M; Zook, Justin M; Carroll, Andrew; Jorde, Lynn B; Neklason, Deborah W; Quinlan, Aaron R; Eichler, Evan E; Eberle, Michael A

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

利用HiFi测序技术对高度相似的旁系同源基因进行全基因组分析

Chen, Xiao; Baker, Daniel; Dolzhenko, Egor; Devaney, Joseph M; Noya, Jessica; Berlyoung, April S; Brandon, Rhonda; Hruska, Kathleen S; Lochovsky, Lucas; Kruszka, Paul; Newman, Scott; Farrow, Emily; Thiffault, Isabelle; Pastinen, Tomi; Kasperaviciute, Dalia; Gilissen, Christian; Vissers, Lisenka; Hoischen, Alexander; Berger, Seth; Vilain, Eric; Délot, Emmanuèle; Eberle, Michael A

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

STRchive:一个动态资源,详细介绍串联重复疾病位点的群体水平和位点特异性见解

Hiatt, Laurel; Weisburd, Ben; Dolzhenko, Egor; Rubinetti, Vincent; Avvaru, Akshay K; VanNoy, Grace E; Kurtas, Nehir Edibe; Rehm, Heidi L; Quinlan, Aaron R; Dashnow, Harriet

HiFi long-read genomes for difficult-to-detect, clinically relevant variants

用于检测难以检测的临床相关变异的高保真长读基因组测序

Höps, Wolfram; Weiss, Marjan M; Derks, Ronny; Galbany, Jordi Corominas; Ouden, Amber den; van den Heuvel, Simone; Timmermans, Raoul; Smits, Jos; Mokveld, Tom; Dolzhenko, Egor; Chen, Xiao; van den Wijngaard, Arthur; Eberle, Michael A; Yntema, Helger G; Hoischen, Alexander; Gilissen, Christian; Vissers, Lisenka E L M

Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

亨廷顿病表型模拟综合征再探:临床比较与新一代测序探索

Koriath, Carolin Anna Maria; Guntoro, Fernando; Norsworthy, Penelope; Dolzhenko, Egor; Eberle, Michael; Hensman Moss, Davina J; Flower, Michael; Hummerich, Holger; Rosser, Anne Elizabeth; Tabrizi, Sarah J; Mead, Simon; Wild, Edward J

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis

疾病相关短串联重复序列在肌萎缩侧索硬化症中的作用

van Vugt, Joke J F A; Zwamborn, Ramona A J; Dolzhenko, Egor; Eberle, Michael A; Weisburd, Ben; Bekema, Erwin; Kooyman, Maarten; Wang, Bi-Nan; Kamsteeg, Erik-Jan; Losekoot, Monique; Baas, Frank; Novy, Camilla; Høyer, Helle; van Eijk, Ruben P A; van Es, Michael A; van Rheenen, Wouter; Al-Chalabi, Ammar; van den Berg, Leonard H; Veldink, Jan H