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

Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study

向 23,840 名成人和儿童反馈常见疾病的基因组信息风险评估结果:一项 eMERGE 网络研究

Lawson, Lucinda P; Prows, Cynthia A; Cortopassi, Josh; Davis, Kyle W; Head, Madilyn; Martin, Lisa J; Perez, Emma F; Sobowale, Agboade; Abul-Husn, Noura S; Bangash, Hana; Bland, Harris T; Bonini, Katherine E; Chisholm, Rex L; Chung, Wendy K; Cimino, James J; Connolly, John J; Crosslin, David R; Freimuth, Robert R; Goff, Blake; Gordon, Adam S; Hakonarson, Hakon; Harr, Margaret H; Henricks, Emma; Hernandez, Valentina; Hoell, Christin; Holm, Ingrid A; Hripcsak, George; Karlson, Elizabeth W; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Kottyan, Leah C; Lennon, Niall J; Limdi, Nita; Linder, Jodell E; Liu, Cong; Manolio, Teri A; Maradik, Mary A; Marathe, Priya N; Maripuri, Devi P; McNally, Elizabeth M; Murphy, Shawn N; Naderian, Mohammadreza; Namjou, Bahram; Odgis, Jacqueline A; Peterson, Josh F; Pineda-Alvarez, Daniel E; Puckelwartz, Megan; Purcell, Jasmine; Rasmussen-Torvik, Laura J; Roden, Dan M; Rosenthal, Elisabeth A; Rowley, Robb; Sabatello, Maya; Scherr, Courtney L; Shaibi, Gabriel Q; Sharp, Richard R; Smoller, Jordan W; Sterling, Rene; Suckiel, Sabrina A; Terek, Shannon; Ting, Yi-Lee; Velez Edwards, Digna R; Walunas, Theresa L; Wei, Wei-Qi; Weng, Chunhua; Wiesner, Georgia L; Xian, Su; Jarvik, Gail P; Kullo, Iftikhar

The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments

电子病历与基因组学研究:评估基因组信息风险评估影响的设计和分析框架

Limdi, Nita; Beasley, T Mark; Cortopassi, Josh; Davis, Brittney; Bangash, Hana; Chen, Jingheng; Chisholm, Rex L; Chung, Wendy K; Cimino, James J; Connolly, John; Crosslin, David R; Davis, Kyle W; DiVietro, Alanna; Esplin, Edward D; Freimuth, Bob; Gordon, Adam; Hakonarson, Hakon; Hamed, Marwan; He, Megan; Hoell, Christin; Holm, Ingrid; Hripscak, George; Irvin, Margurite R; Jarvik, Gail P; Karavite, Dean; Karlson, Elizabeth W; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Knerr, Sarah; Korf, Bruce; Kottyan, Leah; Kullo, Iftikhar; Larkin, Katie; Lennon, Niall; Linder, Jodell E; Manolio, Teri; Martin, Lisa J; McNally, Elizabeth M; Morse, Jennifer; Murphy, Shawn; Namjou, Bahram; Odgis, Jacqueline A; Orlando, Lori; Pacheco, Jennifer; Peterson, Josh F; Pineda-Alvarez, Daniel E; Prows, Cindy; Puckelwartz, Megan; Purcell, Jasmine; Rasmussen-Torvik, Laura; Rehm, Heidi; Roden, Dan M; Rosenthal, Elisabeth A; Rowley, Robb; Sabatello, Maya; Schaid, Daniel; Sharp, Richard; Smith, Johanna L; Smoller, Jordan W; Soper, Emily R; Sterling, Rene; Suckiel, Sabrina A; Terek, Shannon; Thayer, Jeritt; Ting, Yi-Lee; Tiwari, Hemant; Velez-Edwards, Digna; Wagholikar, Kavishwar B; Walunas, Theresa; Wei, Wei-Qi; Weng, Chunua; Wiesner, Georgia; Abul-Husn, Noura S; Veenstra, David L

Transformer patient embedding using electronic health records enables patient stratification and progression analysis

利用电子健康记录进行Transformer患者嵌入,可以实现患者分层和病情进展分析。

Xian, Su; Grabowska, Monika E; Kullo, Iftikhar J; Luo, Yuan; Smoller, Jordan W; Walunas, Theresa L; Wei, Wei-Qi; Jarvik, Gail P; Mooney, Sean D; Crosslin, David R

Polygenic risk scores in the clinic: Health-system leaders and primary care providers weigh in

临床中的多基因风险评分:医疗系统领导者和基层医疗服务提供者的意见

Trinidad, Susan Brown; Fullerton, Stephanie M; Cohn, Betty; Crosslin, David R; Jarvik, Gail P

Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height

从最大规模的、具有不同祖先和性别特征的疾病图谱中获得的关于基因预测身高的启示

Papadopoulou, A; Litkowski, E M; Graff, M; Wang, Z; Smit, R A J; Chittoor, G; Dinsmore, I; Josyula, N S; Lin, M; Shortt, J; Zhu, W; Vedantam, S L; Yengo, L; Wood, A R; Berndt, S I; Holm, I A; Mentch, F D; Hakonarson, H; Kiryluk, K; Weng, C; Jarvik, G P; Crosslin, D; Carrell, D; Kullo, I J; Dikilitas, O; Hayes, M G; Wei, W -Q; Edwards, D R V; Assimes, T L; Hirschhorn, J N; Below, J E; Gignoux, C R; Justice, A E; Loos, R J F; Sun, Y V; Raghavan, S; Deloukas, P; North, K E; Marouli, E

Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancer

全表型组关联研究鉴定出与结直肠癌多基因风险评分相关的多个性状

Rosenthal, Elisabeth A; Wei, Wei-Qi; Luo, Yuan; Namjou-Khales, Bahram; Schaid, Daniel J; Esplin, Edward D; Lape, Michael; Kottyan, Leah; Pacheco, Jennifer Allen; Weng, Chunhua; Gordon, Adam Samuel; Kullo, Iftikhar J; Crosslin, David R; Grady, William M; Hsu, Li; Peters, Ulrike; Jarvik, Gail P

Current Limitations of Electronic Health Record Systems in Supporting Pragmatic Clinical Trials: Insights from the eMERGE Consortium

电子健康记录系统在支持实用临床试验方面的当前局限性:来自 eMERGE 联盟的启示

Wagholikar, Kavishwar B; Pacheco, Jennifer Allen; Gordon, Adam S; Khan, Atlas; Khales, Bahram Namjou; Benoit, Barbara; Kerman, Benjamin J; Weng, Chunhua; Ta, Casey; Prows, Cynthia A; Johnson, Robert; Roden, Dan M; Crosslin, David; McNally, Elizabeth M; Karlson, Elizabeth W; Mentch, Frank; Jarvik, Gail P; Wiesner, Georgia L; Hakonarson, Hakon; Cimino, James J; Thayer, Jeritt G; Smoller, Jordan W; Linder, Jodell E; Connolly, John; Peterson, Josh F; Cortopassi, Josh; Kiryluk, Krzysztof; Hamed, Marwan; Maradik, Mary; Puckelwartz, Megan J; Naderian, Mohammadreza; Walton, Nephi; Limdi, Nita; Maripuri, Devi Priyanka; Walunas, Theresa; Gainer, Vivian; Luo, Yuan; Liu, Cong; Kenny, Eimear E; Espinoza, Angelica; Rowley, Robb; Wei, Wei-Qi; Murphy, Shawn N

Mixed-effects polygenic risk score Phenome-wide association study detects genetic correlation between colorectal cancer risk and phenotype data extracted from the electronic health record

混合效应多基因风险评分全表型关联研究检测结直肠癌风险与从电子健康记录中提取的表型数据之间的遗传相关性

Rosenthal, Elisabeth A; Wei, Wei-Qi; Luo, Yuan; Namjou-Khales, Bahram; Schaid, Daniel J; Esplin, Edward D; Lape, Michael; Kottyan, Leah; Pacheco, Jennifer Allen Pacheco Allen; Weng, Chunhua; Gordon, Adam Samuel; Kullo, Iftikhar J; Crosslin, David R; Grady, William M; Hsu, Li; Peters, Ulrike; Jarvik, Gail P

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

针对美国不同人群,筛选、优化和验证十种慢性病多基因风险评分,以用于临床应用

Lennon, Niall J; Kottyan, Leah C; Kachulis, Christopher; Abul-Husn, Noura S; Arias, Josh; Belbin, Gillian; Below, Jennifer E; Berndt, Sonja I; Chung, Wendy K; Cimino, James J; Clayton, Ellen Wright; Connolly, John J; Crosslin, David R; Dikilitas, Ozan; Velez Edwards, Digna R; Feng, QiPing; Fisher, Marissa; Freimuth, Robert R; Ge, Tian; Glessner, Joseph T; Gordon, Adam S; Patterson, Candace; Hakonarson, Hakon; Harden, Maegan; Harr, Margaret; Hirschhorn, Joel N; Hoggart, Clive; Hsu, Li; Irvin, Marguerite R; Jarvik, Gail P; Karlson, Elizabeth W; Khan, Atlas; Khera, Amit; Kiryluk, Krzysztof; Kullo, Iftikhar; Larkin, Katie; Limdi, Nita; Linder, Jodell E; Loos, Ruth J F; Luo, Yuan; Malolepsza, Edyta; Manolio, Teri A; Martin, Lisa J; McCarthy, Li; McNally, Elizabeth M; Meigs, James B; Mersha, Tesfaye B; Mosley, Jonathan D; Musick, Anjene; Namjou, Bahram; Pai, Nihal; Pesce, Lorenzo L; Peters, Ulrike; Peterson, Josh F; Prows, Cynthia A; Puckelwartz, Megan J; Rehm, Heidi L; Roden, Dan M; Rosenthal, Elisabeth A; Rowley, Robb; Sawicki, Konrad Teodor; Schaid, Daniel J; Smit, Roelof A J; Smith, Johanna L; Smoller, Jordan W; Thomas, Minta; Tiwari, Hemant; Toledo, Diana M; Vaitinadin, Nataraja Sarma; Veenstra, David; Walunas, Theresa L; Wang, Zhe; Wei, Wei-Qi; Weng, Chunhua; Wiesner, Georgia L; Yin, Xianyong; Kenny, Eimear E

Language-model-based patient embedding using electronic health records facilitates phenotyping, disease forecasting, and progression analysis

基于语言模型的患者嵌入技术利用电子健康记录,有助于进行表型分析、疾病预测和进展分析。

Xian, Su; Grabowska, Monika E; Kullo, Iftikhar J; Luo, Yuan; Smoller, Jordan W; Wei, Wei-Qi; Jarvik, Gail; Mooney, Sean; Crosslin, David