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

DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs

DRIVE-KG:利用异构知识图谱增强对研究不足的复杂疾病中变异-表型关联的发现

Rajagopalan, Ananya; Nguyen, Tram Anh; Guare, Lindsay A; Rico, Andre Luis Garao; Venkatesh, Rasika; Caruth, Lannawill; Genetics Center, Regeneron; Medicine BioBank, Penn; Verma, Anurag; Ritchie, Marylyn D; Hall, Molly A; Romano, Joseph D; Setia-Verma, Shefali

DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs

DRIVE-KG:利用异构知识图谱增强对研究不足的复杂疾病中变异-表型关联的发现

Rajagopalan, Ananya; Nguyen, Tram Anh; Guare, Lindsay A; Garao Rico, Andre Luis; Venkatesh, Rasika; Caruth, Lannawill; Verma, Anurag; Ritchie, Marylyn D; Hall, Molly A; Romano, Joseph D; Setia-Verma, Shefali

Common tandem repeat variants associated with glaucoma risk in individuals of African ancestry

非洲裔人群中与青光眼风险相关的常见串联重复序列变异

Pham, Kenneth; Lee, Roy; Rosa, Isabel Di; Salowe, Rebecca; Jin, Fangming; Bradford, Yuki; Ying, Gui-Shuang; Phillips-Cremins, Jennifer E; Setia-Verma, Shefali; O'Brien, Joan

Social Determinants of Health and Lifestyle Risk Factors Modulate Genetic Susceptibility for Women's Health Outcomes

社会健康决定因素和生活方式风险因素调节女性健康结果的遗传易感性

Guare, Lindsay A; Das, Jagyashila; Caruth, Lannawill; Setia-Verma, Shefali

Disease-associated Kv1.3 variants are energy compromised with impaired nascent chain folding

与疾病相关的Kv1.3变体能量受损,新生链折叠功能也受损。

Sykes, Aaron; Caruth, Lannawill; Setia Verma, Shefali; Hoshi, Toshinori; Deutsch, Carol

Endophenotype Guided Genome-Wide Association Study to Enhance Genetic Risk Prediction of Primary Open-Angle Glaucoma in African Ancestry Populations

基于内表型指导的全基因组关联研究,旨在提高非洲裔人群原发性开角型青光眼的遗传风险预测

Sindikubwabo, Aude Benigne Ikuzwe; Caruth, Lannawill; Zhu, Yan; Bradford, Yuki; Salowe, Rebecca; Ritchie, Marylyn D; Vujković, Marijana; O'Brien, Joan; Setia-Verma, Shefali

Multimodal Prediction of Primary Open-Angle Glaucoma Using Polygenic Risk Scores and Clinical Features in a High-Risk African Ancestry Cohort

利用多基因风险评分和临床特征对高危非洲裔人群原发性开角型青光眼进行多模态预测

Zhu, Yan; Ikuzwe Sindikubwabo, Aude Benigne; Bradford, Yuki; Salowe, Rebecca; Caruth, Lannawill; Pham, Kenneth; Laxmi, Moksha; Vrathasha, Vrathasha; Aibo, Marine-Ayan Ibrahim; Lee, Roy; Halimitabrizi, Mina; Rosa, Isabel Di; Ghaffari, Leila; He, Jie; Ritchie, Marylyn D; O'Brien, Joan M; Setia-Verma, Shefali

Expanding the genetic landscape of endometriosis: Integrative -omics analyses implicate key genes and pathways in a multi-ancestry study of over one million women

拓展子宫内膜异位症的遗传图谱:一项涵盖超过一百万名女性的多族裔研究通过整合组学分析揭示关键基因和通路。

Guare, Lindsay A; Das, Jagyashila; Caruth, Lannawill; Rajagopalan, Ananya; Akerele, Alexis T; Brumpton, Ben M; Chen, Tzu-Ting; Kottyan, Leah; Lin, Yen-Feng; Moreno, Elisa; Mulford, Ashley J; Dombrovska, Marija Simona; Luo, Yuan; Rovite, Vita; Sanders, Alan R; Teerlink, Craig; Candelieri, Danielle; Elhadad, Noemie; Hill, Andrew; Jarvik, Gail P; Jaworski, James; Lynch, Julie; Namba, Shinichi; Okada, Yukinori; Shi, Yue; Shirai, Yuya; Shortt, Jonathan; Wei, Wei-Qi; Weng, Chunhua; Yamamoto, Yuji; Biobank, Penn Medicine; Genetics Center, Regeneron; Meta-Analysis Initiative, Global Biobank; Chapman, Sinead; Zhou, Wei; Edwards, Todd; Senapati, Suneeta; Velez Edwards, Digna R; Setia-Verma, Shefali

Large-scale evaluation of proteomic and polygenic risk scores reveals complementary contributions to incident disease prediction

对蛋白质组学和多基因风险评分的大规模评估揭示了二者对疾病发生预测的互补作用

Woerner, Jakob; Westbrook, Thomas M; Joo, Jaehyun; Shivakumar, Manu; Venkatesh, Rasika; Cherlin, Tess; Jung, Sang-Hyuk; Jeong, Seokho; Maseda, Damian; McKeague, Michelle; Shwetank; Ionita, Matei; Wagenaar, Joost; Abramowitz, Sarah A; Verma, Anurag; Zhao, Bingxin; Lee, Seunggeun; Damrauer, Scott; Levin, Michael G; Heo, Su Chin; Cappola, Thomas P; Rader, Daniel J; Day, Sharlene; Deo, Rajat; Gelfand, Joel M; Ramessur, Ravi; Guerraty, Marie A; Setia-Verma, Shefali; Pasaniuc, Bogdan; Ritchie, Marylyn D; Apostolidis, Sokratis A; Greenplate, Allison R; Wherry, E John; Nam, Yonghyun; Kim, Dokyoon

Expanding the genetic landscape of endometriosis: Integrative -omics analyses uncover key pathways from a multi-ancestry study of over 900,000 women

拓展子宫内膜异位症的遗传图谱:整合组学分析揭示了来自超过90万名女性的多族裔研究中的关键通路

Guare, Lindsay A; Das, Jagyashila; Caruth, Lannawill; Rajagopalan, Ananya; Akerele, Alexis T; Brumpton, Ben M; Chen, Tzu-Ting; Kottyan, Leah; Lin, Yen-Feng; Moreno, Elisa; Mulford, Ashley J; Rovite, Vita; Sanders, Alan R; Dombrovska, Marija Simona; Elhadad, Noemie; Hill, Andrew; Jarvik, Gail; Jaworski, James; Luo, Yuan; Namba, Shinichi; Okada, Yukinori; Shi, Yue; Shirai, Yuya; Shortt, Jonathan; Wei, Wei-Qi; Weng, Chunhua; Yamamoto, Yuji; Chapman, Sinead; Zhou, Wei; Velez Edwards, Digna R; Setia-Verma, Shefali