未登录 Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results 在多样化和弱势儿童人群中的基因组测序：家长对结果的理解、不确定性、心理社会影响和个人效用观点 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 分享 收藏
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Advancing genomics to improve health equity 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.; Halbert, Chanita A. Hughes; Inouye, Michael; Jackson, Amber; Landry, Latrice G.; Kittles, Rick A.; Leek, Jeff T.; Limdi, Nita A.; Lockhart, Nicole C.; Ofili, Elizabeth O.; Perez-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. 分享 收藏
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 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 分享 收藏
Parent-Reported Clinical Utility of Pediatric Genomic Sequencing Smith, Hadley Stevens; Ferket, Bart S. S.; Gelb, Bruce D. D.; Hindorff, Lucia; Ferar, Kathleen D. D.; Norton, Mary E. E.; Sahin-Hodoglugil, Nuriye; Slavotinek, Anne; Lich, Kristen Hasmiller; Berg, Jonathan S. S.; Russell, Heidi V. V. 分享 收藏
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource Nhgri-ebi GWAS目录: 知识库和沉积资源 Sollis, Elliot; Mosaku, Abayomi; Abid, Ala; Buniello, Annalisa; Cerezo, Maria; Gil, Laurent; Groza, Tudor; Gunes, 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, Zoe; Ramachandran, Santhi; Stefancsik, Ray; Stewart, Jonathan; Whetzel, Patricia; Wilson, Robert; Hindorff, Lucia; Cunningham, Fiona; Lambert, Samuel A.; Inouye, Michael; Parkinson, Helen; Harris, Laura W. 分享 收藏
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods 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. 分享 收藏
Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience Muenzen, Kathleen D.; Amendola, Laura M.; Kauffman, Tia L.; Mittendorf, Kathleen F.; Bensen, Jeannette T.; Chen, Flavia; Green, Richard; Powell, Bradford C.; Kvale, Mark; Angelo, Frank; Farnan, Laura; Fullerton, Stephanie M.; Robinson, Jill O.; Li, Tianran; Murali, Priyanka; Lawlor, James M. J.; Ou, Jeffrey; Hindorff, Lucia A.; Jarvik, Gail P.; Crosslin, David R. 分享 收藏
Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits 祖先不同人群中预测的基因表达导致发现生活方式和心脏代谢特征的易感性位点 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. 分享 收藏
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways Ferket, Bart; Baldwin, Zach; Murali, Priyanka; Pai, Akila; Russell, Heidi; Lynch, Frances; Lich, Kristen Hassmiller; Hindorff, Lucia; Slavotinek, Anne; Gelb, Bruce; Veenstra, David; Smith, Hadley 分享 收藏
US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER) 美国私人付款人对基因组测序与外显子组测序保险范围的看法: 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 分享 收藏
Perspective Workshop proceedings: GWAS summary statistics standards and sharing Macarthur, Jacqueline A. L.; Buniello, Annalisa; Harris, Laura W.; Hayhurst, James; Mcmahon, Aoife; Sollis, Elliot; Cerezo, Maria; Hall, Peggy; Lewis, Elizabeth; Whetzel, Patricia L.; Bahcall, Orli G.; Barroso, Ines; Carroll, Robert J.; Inouye, Michael; Manolio, Teri A.; Rich, Stephen S.; Hindorff, Lucia A.; Wiley, Ken; Parkinson, Helen 分享 收藏
Sequencing-based genome-wide association studies reporting standards Mcmahon, Aoife; Lewis, Elizabeth; Buniello, Annalisa; Cerezo, Maria; Hall, Peggy; Sollis, Elliot; Parkinson, Helen; Hindorff, Lucia A.; Harris, Laura W.; Macarthur, Jacqueline A. L. 分享 收藏
Multi-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) Study (vol 22, 432, 2021) Hu, Yao; Bien, Stephanie A.; Nishimura, Katherine K.; Haessler, Jeffrey; Hodonsky, Chani J.; Baldassari, Antoine R.; Highland, Heather M.; Wang, Zhe; Preuss, Michael; Sitlani, Colleen M.; Wojcik, Genevieve L.; Tao, Ran; Graff, Mariaelisa; Huckins, Laura M.; Sun, Quan; Chen, Ming-Huei; Mousas, Abdou; Auer, Paul L.; Lettre, Guillaume; Tang, Weihong; Qi, Lihong; Thyagarajan, Bharat; Buyske, Steve; Fornage, Myriam; Hindorff, Lucia A.; Li, Yun; Lin, Danyu; Reiner, Alexander P.; North, Kari E.; Loos, Ruth J. F.; Raffield, Laura M.; Peters, Ulrike; Avery, Christy L.; Kooperberg, Charles 分享 收藏
Alaska Native genomic research: perspectives from Alaska Native leaders, federal staff, and biomedical researchers Hiratsuka, Vanessa Y.; Hahn, Michael J.; Woodbury, R. Brian; Hull, Sara Chandros; Wilson, David R.; Bonham, Vence L.; Dillard, Denise A.; Avey, Jaedon P.; Beckel-Mitchener, Andrea C.; Blome, Juliana; Claw, Katrina; Ferucci, Elizabeth D.; Gachupin, Francine C.; Ghazarian, Armen; Hindorff, Lucia; Jooma, Sonya; Trinidad, Susan B.; Troyer, Jennifer; Walajahi, Hina 分享 收藏
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies 在九项基因组实施研究中使用acmg-amp变体解释指南进行变体分类一致性 Amendola, Laura M.; Muenzen, Kathleen; Biesecker, Leslie G.; Bowling, Kevin M.; Cooper, Greg M.; Dorschner, Michael O.; Driscoll, Catherine; Foreman, Ann Katherine M.; Golden-Grant, Katie; Greally, John M.; Hindorff, Lucia; Kanavy, Dona; Jobanputra, Vaidehi; Johnston, Jennifer J.; Kenny, Eimear E.; McNulty, Shannon; Murali, Priyanka; Ou, Jeffrey; Powell, Bradford C.; Rehm, Heidi L.; Rolf, Bradley; Roman, Tamara S.; Van Ziffle, Jessica; Guha, Saurav; Abhyankar, Avinash; Crosslin, David; Venner, Eric; Yuan, Bo; Zouk, Hana; Jarvik, Gail P. 分享 收藏
Multi-Ethnic Genome-Wide Association Study of Decomposed Cardioelectric Phenotypes Illustrates Strategies to Identify and Characterize Evidence of Shared Genetic Effects for Complex Traits 分解的心电表型的多种族全基因组关联研究说明了识别和表征复杂性状共享遗传效应证据的策略 Baldassari, Antoine R.; Sitlani, Colleen M.; Highland, Heather M.; Arking, Dan E.; Buyske, Steve; Darbar, Dawood; Gondalia, Rahul; Graff, Misa; Guo, Xiuqing; Heckbert, Susan R.; Hindorff, Lucia A.; Hodonsky, Chani J.; Ida Chen, Yii-Der; Kaplan, Robert C.; Peters, Ulrike; Post, Wendy; Reiner, Alex P.; Rotter, Jerome I.; Shohet, Ralph V.; Seyerle, Amanda A.; Sotoodehnia, Nona; Tao, Ran; Taylor, Kent D.; Wojcik, Genevieve L.; Yao, Jie; Kenny, Eimear E.; Lin, Henry J.; Soliman, Elsayed Z.; Whitsel, Eric A.; North, Kari E.; Kooperberg, Charles; Avery, Christy L. 分享 收藏
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures Popejoy, Alice B.; Crooks, Kristy R.; Fullerton, Stephanie M.; Hindorff, Lucia A.; Hooker, Gillian W.; Koenig, Barbara A.; Pino, Natalie; Ramos, Erin M.; Ritter, Deborah, I; Wand, Hannah; Wright, Matt W.; Yudell, Michael; Zou, James Y.; Plon, Sharon E.; Bustamante, Carlos D.; Ormond, Kelly E. 分享 收藏
Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics 在红细胞性状的全基因组联合表型研究中确定的祖先特异性关联强调了基因组学多样性的好处 Hodonsky, Chani J.; Baldassari, Antoine R.; Bien, Stephanie A.; Raffield, Laura M.; Highland, Heather M.; Sitlani, Colleen M.; Wojcik, Genevieve L.; Tao, Ran; Graff, Marielisa; Tang, Weihong; Thyagarajan, Bharat; Buyske, Steve; Fornage, Myriam; Hindorff, Lucia A.; Li, Yun; Lin, Danyu; Reiner, Alex P.; North, Kari E.; Loos, Ruth J. F.; Kooperberg, Charles; Avery, Christy L. 分享 收藏
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research Horowitz, Carol R.; Orlando, Lori A.; Slavotinek, Anne M.; Peterson, Josh; Angelo, Frank; Biesecker, Barbara; Bonham, Vence L.; Cameron, Linda D.; Fullerton, Stephanie M.; Gelb, Bruce D.; Goddard, Katrina A. B.; Hailu, Benyam; Hart, Ragan; Hindorff, Lucia A.; Jarvik, Gail P.; Kaufman, Dave; Kenny, Eimear E.; Knight, Sara J.; Koenig, Barbara A.; Korf, Bruce R.; Madden, Ebony; McGuire, Amy L.; Ou, Jeffrey; Wasserstein, Melissa P.; Robinson, Mimsie; Leventhal, Howard; Sanderson, Saskia C. 分享 收藏
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