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

Understanding opioid use within the substance use journeys of adults receiving treatment: a qualitative study protocol of the participant-led timeline mapping approach

了解接受治疗的成年人在物质使用历程中的阿片类药物使用情况:一项基于参与者主导的时间线映射方法的定性研究方案

Estrella, Maria Jennifer; Wells, Samantha; Foy, Rachel; Quilty, Lena; Bozinoff, Nikki; Buckley, Leslie; Lincoln, Stephen; Patenaude, Sean; Ali, Farihah

Curated variation benchmarks for challenging medically relevant autosomal genes

针对具有挑战性的医学相关常染色体基因的精选变异基准

Wagner, Justin; Olson, Nathan D; Harris, Lindsay; McDaniel, Jennifer; Cheng, Haoyu; Fungtammasan, Arkarachai; Hwang, Yih-Chii; Gupta, Richa; Wenger, Aaron M; Rowell, William J; Khan, Ziad M; Farek, Jesse; Zhu, Yiming; Pisupati, Aishwarya; Mahmoud, Medhat; Xiao, Chunlin; Yoo, Byunggil; Sahraeian, Sayed Mohammad Ebrahim; Miller, Danny E; Jáspez, David; Lorenzo-Salazar, José M; Muñoz-Barrera, Adrián; Rubio-Rodríguez, Luis A; Flores, Carlos; Narzisi, Giuseppe; Evani, Uday Shanker; Clarke, Wayne E; Lee, Joyce; Mason, Christopher E; Lincoln, Stephen E; Miga, Karen H; Ebbert, Mark T W; Shumate, Alaina; Li, Heng; Chin, Chen-Shan; Zook, Justin M; Sedlazeck, Fritz J

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

七分之一的致病变异难以通过二代测序(NGS)检测:一项对45万患者的分析揭示了其对临床敏感性和基因检测实施的影响。

Lincoln, Stephen E; Hambuch, Tina; Zook, Justin M; Bristow, Sara L; Hatchell, Kathryn; Truty, Rebecca; Kennemer, Michael; Shirts, Brian H; Fellowes, Andrew; Chowdhury, Shimul; Klee, Eric W; Mahamdallie, Shazia; Cleveland, Megan H; Vallone, Peter M; Ding, Yan; Seal, Sheila; DeSilva, Wasanthi; Tomson, Farol L; Huang, Catherine; Garlick, Russell K; Rahman, Nazneen; Salit, Marc; Kingsmore, Stephen F; Ferber, Matthew J; Aradhya, Swaroop; Nussbaum, Robert L

Dynamic Transcriptomic and Phosphoproteomic Analysis During Cell Wall Stress in Aspergillus nidulans.

构巢曲霉细胞壁应激过程中的动态转录组学和磷酸化蛋白质组学分析

Chelius Cynthia, Huso Walker, Reese Samantha, Doan Alexander, Lincoln Stephen, Lawson Kelsi, Tran Bao, Purohit Raj, Glaros Trevor, Srivastava Ranjan, Harris Steven D, Marten Mark R

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

孟德尔疾病基因内拷贝数变异的普遍性和特征

Truty, Rebecca; Paul, Joshua; Kennemer, Michael; Lincoln, Stephen E; Olivares, Eric; Nussbaum, Robert L; Aradhya, Swaroop

Low-abundant bacteria drive compositional changes in the gut microbiota after dietary alteration

饮食改变后,低丰度细菌会驱动肠道菌群组成发生变化。

Benjamino, Jacquelynn; Lincoln, Stephen; Srivastava, Ranjan; Graf, Joerg

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

利用家系图评估罕见变异对2型糖尿病及相关性状的贡献

Jun, Goo; Manning, Alisa; Almeida, Marcio; Zawistowski, Matthew; Wood, Andrew R; Teslovich, Tanya M; Fuchsberger, Christian; Feng, Shuang; Cingolani, Pablo; Gaulton, Kyle J; Dyer, Thomas; Blackwell, Thomas W; Chen, Han; Chines, Peter S; Choi, Sungkyoung; Churchhouse, Claire; Fontanillas, Pierre; King, Ryan; Lee, SungYoung; Lincoln, Stephen E; Trubetskoy, Vasily; DePristo, Mark; Fingerlin, Tasha; Grossman, Robert; Grundstad, Jason; Heath, Alison; Kim, Jayoun; Kim, Young Jin; Laramie, Jason; Lee, Jaehoon; Li, Heng; Liu, Xuanyao; Livne, Oren; Locke, Adam E; Maller, Julian; Mazur, Alexander; Morris, Andrew P; Pollin, Toni I; Ragona, Derek; Reich, David; Rivas, Manuel A; Scott, Laura J; Sim, Xueling; Tearle, Rick G; Teo, Yik Ying; Williams, Amy L; Zöllner, Sebastian; Curran, Joanne E; Peralta, Juan; Akolkar, Beena; Bell, Graeme I; Burtt, Noël P; Cox, Nancy J; Florez, Jose C; Hanis, Craig L; McKeon, Catherine; Mohlke, Karen L; Seielstad, Mark; Wilson, James G; Atzmon, Gil; Below, Jennifer E; Dupuis, Josée; Nicolae, Dan L; Lehman, Donna; Park, Taesung; Won, Sungho; Sladek, Robert; Altshuler, David; McCarthy, Mark I; Duggirala, Ravindranath; Boehnke, Michael; Frayling, Timothy M; Abecasis, Gonçalo R; Blangero, John

Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar

更正:ClinVar数据库中种系变异分类不一致的原因

Yang, Shan; Lincoln, Stephen E; Kobayashi, Yuya; Nykamp, Keith; Nussbaum, Robert L; Topper, Scott

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

ExAC数据库中致病变异负荷:一种评估人群数据以进行临床变异解读的经验方法

Kobayashi, Yuya; Yang, Shan; Nykamp, Keith; Garcia, John; Lincoln, Stephen E; Topper, Scott E

Sources of discordance among germ-line variant classifications in ClinVar

ClinVar数据库中种系变异分类不一致的原因

Yang, Shan; Lincoln, Stephen E; Kobayashi, Yuya; Nykamp, Keith; Nussbaum, Robert L; Topper, Scott