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

Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results

针对不同及服务不足的儿科人群进行基因组测序:家长对结果的理解、不确定性、社会心理影响及个人实用性的看法

Biesecker, Barbara B; Ackerman, Sara L; Brothers, Kyle B; East, Kelly M; Foreman, Ann Katherine M; Hindorff, Lucia A; Horowitz, Carol R; Jarvik, Gail P; Knight, Sara J; Leo, Michael C; Patrick, Donald L; Rini, Christine; Robinson, Jill O; Sahin-Hodoglugil, Nuriye Nalan; Slavotinek, Anne; Suckiel, Sabrina A; Veenstra, David L; Zinberg, Randi E; Hunter, Jessica Ezzell

Advancing genomics to improve health equity

推进基因组学发展以改善健康公平性

Madden, Ebony B; Hindorff, Lucia A; Bonham, Vence L; Akintobi, Tabia Henry; Burchard, Esteban G; Baker, Kellan E; Begay, Rene L; Carpten, John D; Cox, Nancy J; Di Francesco, Valentina; Dillard, Denise A; Fletcher, Faith E; Fullerton, Stephanie M; Garrison, Nanibaa' A; Hammack-Aviran, Catherine M; Hiratsuka, Vanessa Y; Hildreth, James E K; Horowitz, Carol R; Hughes Halbert, Chanita A; Inouye, Michael; Jackson, Amber; Landry, Latrice G; Kittles, Rick A; Leek, Jeff T; Limdi, Nita A; Lockhart, Nicole C; Ofili, Elizabeth O; Pérez-Stable, Eliseo J; Sabatello, Maya; Saulsberry, Loren; Schools, Lorjetta E; Troyer, Jennifer L; Wilfond, Benjamin S; Wojcik, Genevieve L; Cho, Judy H; Lee, Sandra S-J; Green, Eric D

The motivation and process for developing a consortium-wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care

本文阐述了开展一项全联盟范围的时间和动作研究的动机和过程,旨在评估基因组测序创新在指导患者护理方面对资源的影响。

Hoban, Hannah G; Yip, Tiffany A; Chau, Joanna C; Bensen, Jeannette T; Desrosiers, Lauren R; Finnila, Candice R; Hindorff, Lucia A; Kelly, Nicole R; Lynch, Frances L; Rolf, Bradley A; Smith, Hadley S; Wasserstein, Melissa P; Hassmiller Lich, Kristen

Patterns of pharmacogenetic variation in nine biogeographic groups

九个生物地理群体中药物遗传变异的模式

Hernandez, Sophia; Hindorff, Lucia A; Morales, Joannella; Ramos, Erin M; Manolio, Teri A

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

NHGRI-EBI GWAS目录:知识库和存档资源

Sollis, Elliot; Mosaku, Abayomi; Abid, Ala; Buniello, Annalisa; Cerezo, Maria; Gil, Laurent; Groza, Tudor; Güneş, Osman; Hall, Peggy; Hayhurst, James; Ibrahim, Arwa; Ji, Yue; John, Sajo; Lewis, Elizabeth; MacArthur, Jacqueline A L; McMahon, Aoife; Osumi-Sutherland, David; Panoutsopoulou, Kalliope; Pendlington, Zoë; Ramachandran, Santhi; Stefancsik, Ray; Stewart, Jonathan; Whetzel, Patricia; Wilson, Robert; Hindorff, Lucia; Cunningham, Fiona; Lambert, Samuel A; Inouye, Michael; Parkinson, Helen; Harris, Laura W

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

家长报告的儿科基因组测序的临床应用价值

Smith, Hadley Stevens; Ferket, Bart S; Gelb, Bruce D; Hindorff, Lucia; Ferar, Kathleen D; Norton, Mary E; Sahin-Hodoglugil, Nuriye; Slavotinek, Anne; Lich, Kristen Hasmiller; Berg, Jonathan S; Russell, Heidi V

Lessons learned while starting multi-institutional genetics research in diverse populations: A report from the Clinical Sequencing Evidence-Generating Research (CSER) consortium

在不同人群中开展多机构遗传学研究的经验教训:来自临床测序证据生成研究(CSER)联盟的报告

Russell, Heidi; Smith, Hadley Stevens; Bensen, Jeannette T; Murali, Priyanka; Ferket, Bart S; Finnila, Candice; Hindorff, Lucia A; Sahin-Hodoglugil, Nuriye

Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits

对祖先背景不同的群体进行基因表达预测,有助于发现与生活方式和心血管代谢特征相关的易感基因位点。

Highland, Heather M; Wojcik, Genevieve L; Graff, Mariaelisa; Nishimura, Katherine K; Hodonsky, Chani J; Baldassari, Antoine R; Cote, Alanna C; Cheng, Iona; Gignoux, Christopher R; Tao, Ran; Li, Yuqing; Boerwinkle, Eric; Fornage, Myriam; Haessler, Jeffrey; Hindorff, Lucia A; Hu, Yao; Justice, Anne E; Lin, Bridget M; Lin, Danyu; Stram, Daniel O; Haiman, Christopher A; Kooperberg, Charles; Le Marchand, Loic; Matise, Tara C; Kenny, Eimear E; Carlson, Christopher S; Stahl, Eli A; Avery, Christy L; North, Kari E; Ambite, Jose Luis; Buyske, Steven; Loos, Ruth J; Peters, Ulrike; Young, Kristin L; Bien, Stephanie A; Huckins, Laura M

US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER)

美国私人支付方对基因组测序与外显子组测序保险覆盖范围的看法:临床测序证据生成研究联盟 (CSER) 的一项研究

Phillips, Kathryn A; Trosman, Julia R; Douglas, Michael P; Gelb, Bruce D; Ferket, Bart S; Hindorff, Lucia A; Slavotinek, Anne M; Berg, Jonathan S; Russell, Heidi V; Devine, Beth; Greve, Veronica; Smith, Hadley Stevens

Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods

用于比较基因组和外显子组测序与传统诊断途径的成本效益框架:范围界定综述和推荐方法

Ferket, Bart S; Baldwin, Zach; Murali, Priyanka; Pai, Akila; Mittendorf, Kathleen F; Russell, Heidi V; Chen, Flavia; Lynch, Frances L; Lich, Kristen Hassmiller; Hindorff, Lucia A; Savich, Renate; Slavotinek, Anne; Smith, Hadley Stevens; Gelb, Bruce D; Veenstra, David L