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

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

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

Probing tau citrullination in Alzheimer's disease brains and mouse models of tauopathy.

探究阿尔茨海默病患者脑组织和 tau 蛋白病小鼠模型中的 tau 蛋白瓜氨酸化。

Liang Huimin, Hunt Jerry B Jr, Ma Chao, Kovalenko Andrii, Calahatian John, Pedersen Cecelie, Liu Haiying, Li Junyan, Serrano Malina, Blazier Danielle, Watler Mallory, Rocha-Rangel Patricia, Saunders Christopher, Blair Laura J, Breydo Leonid, Nash Kevin, Quadri Zainuddin, Kraemer Brian, Nelson Peter, Norris Christopher, Abner Erin L, Uversky Vladimir N, Chaput Dale, Selenica Maj-Linda B, Lee Daniel C

Complex structural variant visualization with SVTopo

利用 SVTopo 进行复杂结构变异可视化

Belyeu, Jonathan R; Rowell, William J; Lake, Juniper A; Holt, James Matthew; Kronenberg, Zev; Saunders, Christopher T; Eberle, Michael A

COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet

欧洲注册登记处ERN-EuroBloodNet的研究结果显示,患有红细胞疾病的患者感染COVID-19的情况较为严重。

Velasco Puyo, Pablo; Christou, Soteroula; Campisi, Saveria; Rodríguez-Sánchez, Maria A; Reidel, Sara; Perez-Hoyo, Santiago; Mota, Miriam; Savvidou, Irene; Rekleiti, Anna; Salvo, Alessandra; Voi, Vincenzo; Ferrero, Giovanni Battista; Mandrile, Giorgia; Gaglioti, Carmen Maria; Cela, Elena; Ponce-Salas, Beatriz; Bardón-Cancho, Eduardo J; Flevari, Pagona; Voskaridou-Dimoula, Ersi; Nur, Erfan; Biemond, Bart J; Delaporta, Polynexi; Beneitez-Pastor, David; Collado Gimbert, Anna; Spasiano, Anna; Besse-Hammer, Tatiana; Lafiatis, Ioannis G; Dedeken, Laurence; Raso, Simona; Ruiz-Llobet, Anna; Bagnato, Sabrina; Labarque, Veerle; Glenthøj, Andreas; Ruffo, Giovan Battista; Guerzoni, Maria Elena; Hafraoui, Kaoutar; Pistoia, Laura; Rosso, Rosamaria; Tagliaferri, Laura; Gonzalez-Urdiales, Paula; Benghiat, Fleur Samantha; de Montalembert, Mariane; Teles, Maria Jose; Vanderfaeillie, Anna; Bertoni, Elisa; Cuzzubbo, Daniela; Ferreira, Teresa; Saunders, Christopher J; Stiakaki, Eftichia; Van de Velde, Ann L; Diamantidis, Michael D; Kerkhoffs, Jean-Louis H; Oliveira, Marisa I; Quota, Alessandra; Russo, Roberta; Van Damme, An; Argüello Marina, María; Lorite Reggiori, Mikael; Rijneveld, Anita W; Rodríguez Gallego, Alexis; Colombatti, Raffaella; Iolascon, Achille; Taher, Ali; Gulbis, Béatrice; Roy, Noémi B A; Mañú-Pereira, María Del Mar

LCSkPOA: enabling banded semi-global partial order alignments via efficient and accurate backbone generation through extended LCSk+

LCSkPOA:通过扩展的LCSk+实现高效、精确的主链生成,从而实现带状半全局部分顺序比对

Weerakoon, Minindu; Saunders, Christopher T; Heaton, Haynes

Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling

Sawfish:利用局部单倍型模型改进长读长结构变异发现和基因分型

Saunders, Christopher T; Holt, James M; Baker, Daniel N; Lake, Juniper A; Belyeu, Jonathan R; Kronenberg, Zev; Rowell, William J; Eberle, Michael A

A Murine Database of Structural Variants Enables the Genetic Architecture of a Spontaneous Murine Lymphoma to be Characterized

小鼠结构变异数据库可用于表征自发性小鼠淋巴瘤的遗传结构

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

Systematic Review and Meta-analysis of Clinical Outcomes Following Meniscus Repair in Patients 40 Years and Older

40岁及以上患者半月板修复术后临床结果的系统评价和荟萃分析

Sedgwick, Matthew J; Saunders, Christopher; Getgood, Alan M J