Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry

Detalhes bibliográficos
Autor(a) principal: Kessler, Michael D
Data de Publicação: 2016
Outros Autores: Armstrong, Laura Yerges, Taub, Margaret A, Shetty, Amol C, Maloney, Kristin, Jeng, Linda Jo Bone, Ruczinski, Ingo, Levin, Albert M, Williams, L Keoki, Beaty, Terri H, Mathias, Rasika A, Barnes, Kathleen C, O'Connor, Timothy D, Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA)
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/18298
Resumo: Oliveira, Ricardo Riccio. Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Laboratório de Patologia Experimental. Salvador, BA, Brasil. Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) Meher Preethi Boorgula9, Monica Campbell9, Sameer Chavan9, Jean G. Ford8,11, Cassandra Foster9, Li Gao9, Nadia N. Hansel9, Edward Horowitz9, Lili Huang9, Romina Ortiz9, Joseph Potee9, Nicholas Rafaels9, Alan F. Scott9, Candelaria Vergara9, Jingjing Gao12, Yijuan Hu13, Henry Richard Johnston13, Zhaohui S. Qin13, Badri Padhukasahasram6,7, GeorgiaM.Dunston14,15, Mezbah U. Faruque15, Eimear E. Kenny16,17, Kimberly Gietzen18, Mark Hansen18, Rob Genuario18, Dave Bullis18, Cindy Lawley18, Aniket Deshpande19, Wendy E. Grus19, Devin P. Locke19, Marilyn G. Foreman20, Pedro C. Avila21, Leslie Grammer21, Kwang-Youn A. Kim22, Rajesh Kumar23,24, Robert Schleimer25, Carlos Bustamante16, Francisco M. De La Vega16, Chris R. Gignoux16, Suyash S. Shringarpure16, Shaila Musharoff16, Genevieve Wojcik16, Esteban G. Burchard26,27, Celeste Eng27, Pierre-Antoine Gourraud28, Ryan D. Hernandez26,29,30, Antoine Lizee28, Maria Pino-Yanes27,31, Dara G. Torgerson27, Zachary A. Szpiech26, Raul Torres32, Dan L. Nicolae33,34, Carole Ober35, Christopher O. Olopade36, Olufunmilayo I. Olopade33, Oluwafemi Oluwole33, Ganiyu Arinola37, Wei Song1,2,3, Goncalo Abecasis38, Adolfo Correa39, Solomon Musani39, James G.Wilson40, Leslie A. Lange41, Joshua Akey42, Michael Bamshad43, Jessica Chong43, Wenqing Fu42, Deborah Nickerson42, Alexander Reiner44, Tina Hartert45, Lorraine B. Ware45,46, Eugene Bleecker47, Deborah Meyers47, Victor E. Ortega47, Maul R.N. Pissamai48, Maul R.N. Trevor48, Harold Watson49,50, Maria Ilma Araujo51, Ricardo Riccio Oliveira52, Luis Caraballo53, Javier Marrugo54, Beatriz Martinez53, Catherine Meza53, Gerardo Ayestas55, Edwin Francisco Herrera-Paz56,57,58, Pamela Landaverde-Torres56, Said Omar Leiva Erazo56, Rosella Martinez56, Alvaro Mayorga57, Luis F. Mayorga56, Delmy-Aracely Mejia-Mejia57,58, Hector Ramos56, Allan Saenz55, Gloria Varela55, Olga Marina Vasquez58, Trevor Ferguson59, Jennifer Knight-Madden59, Maureen Samms-Vaughan60, Rainford J. Wilks59, Akim Adegnika61,62,63, Ulysse Ateba-Ngoa61,62,63 & Maria Yazdanbakhsh63
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spelling Kessler, Michael DArmstrong, Laura YergesTaub, Margaret AShetty, Amol CMaloney, KristinJeng, Linda Jo BoneRuczinski, IngoLevin, Albert MWilliams, L KeokiBeaty, Terri HMathias, Rasika ABarnes, Kathleen CO'Connor, Timothy DConsortium on Asthma among African-ancestry Populations in the Americas (CAAPA)2017-04-06T17:10:08Z2017-04-06T17:10:08Z2016KESSLER, M. D. et al. Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry. Nature Communications, v. 7, p. 12521, 2016.2041-1723https://www.arca.fiocruz.br/handle/icict/1829810.1038/ncomms12521Oliveira, Ricardo Riccio. Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Laboratório de Patologia Experimental. Salvador, BA, Brasil. Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) Meher Preethi Boorgula9, Monica Campbell9, Sameer Chavan9, Jean G. Ford8,11, Cassandra Foster9, Li Gao9, Nadia N. Hansel9, Edward Horowitz9, Lili Huang9, Romina Ortiz9, Joseph Potee9, Nicholas Rafaels9, Alan F. Scott9, Candelaria Vergara9, Jingjing Gao12, Yijuan Hu13, Henry Richard Johnston13, Zhaohui S. Qin13, Badri Padhukasahasram6,7, GeorgiaM.Dunston14,15, Mezbah U. Faruque15, Eimear E. Kenny16,17, Kimberly Gietzen18, Mark Hansen18, Rob Genuario18, Dave Bullis18, Cindy Lawley18, Aniket Deshpande19, Wendy E. Grus19, Devin P. Locke19, Marilyn G. Foreman20, Pedro C. Avila21, Leslie Grammer21, Kwang-Youn A. Kim22, Rajesh Kumar23,24, Robert Schleimer25, Carlos Bustamante16, Francisco M. De La Vega16, Chris R. Gignoux16, Suyash S. Shringarpure16, Shaila Musharoff16, Genevieve Wojcik16, Esteban G. Burchard26,27, Celeste Eng27, Pierre-Antoine Gourraud28, Ryan D. Hernandez26,29,30, Antoine Lizee28, Maria Pino-Yanes27,31, Dara G. Torgerson27, Zachary A. Szpiech26, Raul Torres32, Dan L. Nicolae33,34, Carole Ober35, Christopher O. Olopade36, Olufunmilayo I. Olopade33, Oluwafemi Oluwole33, Ganiyu Arinola37, Wei Song1,2,3, Goncalo Abecasis38, Adolfo Correa39, Solomon Musani39, James G.Wilson40, Leslie A. Lange41, Joshua Akey42, Michael Bamshad43, Jessica Chong43, Wenqing Fu42, Deborah Nickerson42, Alexander Reiner44, Tina Hartert45, Lorraine B. Ware45,46, Eugene Bleecker47, Deborah Meyers47, Victor E. Ortega47, Maul R.N. Pissamai48, Maul R.N. Trevor48, Harold Watson49,50, Maria Ilma Araujo51, Ricardo Riccio Oliveira52, Luis Caraballo53, Javier Marrugo54, Beatriz Martinez53, Catherine Meza53, Gerardo Ayestas55, Edwin Francisco Herrera-Paz56,57,58, Pamela Landaverde-Torres56, Said Omar Leiva Erazo56, Rosella Martinez56, Alvaro Mayorga57, Luis F. Mayorga56, Delmy-Aracely Mejia-Mejia57,58, Hector Ramos56, Allan Saenz55, Gloria Varela55, Olga Marina Vasquez58, Trevor Ferguson59, Jennifer Knight-Madden59, Maureen Samms-Vaughan60, Rainford J. Wilks59, Akim Adegnika61,62,63, Ulysse Ateba-Ngoa61,62,63 & Maria Yazdanbakhsh63University of Maryland School of Medicine. Institute for Genome Sciences. Baltimore, Maryland, USAUniversity of Maryland School ofMedicine. Department of Medicine. Baltimore, Maryland, USA / University of Maryland School of Medicine. Baltimore, Maryland, USAJohns Hopkins University. Department of Biostatistics, Bloomberg School of Public Health. Baltimore, Maryland, USAUniversity of Maryland School of Medicine. Institute for Genome Sciences. Baltimore, Maryland, USAUniversity of Maryland School of Medicine. Baltimore, Maryland, USAUniversity of Maryland School of Medicine. Baltimore, Maryland, USAJohns Hopkins University. Department of Biostatistics, Bloomberg School of Public Health. Baltimore, Maryland, USAHenry Ford Health System. Department of Public Health Sciences. Detroit, Michigan, USAHenry Ford Health System. Center for Health Policy & Health Services Research. Detroit, Michigan, USA / Henry Ford Health System. Department of Internal Medicine. Detroit, Michigan, USAJohns Hopkins University. Department of Epidemiology, Bloomberg School of Public Health. Baltimore, Maryland, USAJohns Hopkins University. Department of Epidemiology, Bloomberg School of Public Health. Baltimore, Maryland, USA / Johns Hopkins University. Department of Medicine. Baltimore, Maryland, USAJohns Hopkins University. Department of Epidemiology, Bloomberg School of Public Health. Baltimore, Maryland, USA / Johns Hopkins University. Department of Medicine. Baltimore, Maryland, USA / University of Colorado. Department of Medicine.Aurora, Colorado, USAUniversity of Maryland School of Medicine. Institute for Genome Sciences. Baltimore, Maryland, USA / University of Maryland School ofMedicine. Department of Medicine. Baltimore, Maryland, USA / University of Maryland School of Medicine. Baltimore, Maryland, USA. Múltipla - ver em NotasTo characterize the extent and impact of ancestry-related biases in precision genomic medicine, we use 642 whole-genome sequences from the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) project to evaluate typical filters and databases. We find significant correlations between estimated African ancestry proportions and the number of variants per individual in all variant classification sets but one. The source of these correlations is highlighted in more detail by looking at the interaction between filtering criteria and the ClinVar and Human Gene Mutation databases. ClinVar's correlation, representing African ancestry-related bias, has changed over time amidst monthly updates, with the most extreme switch happening between March and April of 2014 (r=0.733 to r=-0.683). We identify 68 SNPs as the major drivers of this change in correlation. As long as ancestry-related bias when using these clinical databases is minimally recognized, the genetics community will face challenges with implementation, interpretation and cost-effectiveness when treating minority populations.engNature Publishing GroupAscendencia africanaGenéticaPopulaçõesGenomaAfrican ancestryGeneticPopulationsGenomeChallenges and disparities in the application of personalized genomic medicine to populations with African ancestryinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/18298/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALKessler MD Challenges and....pdfKessler MD Challenges 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dc.title.pt_BR.fl_str_mv Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry
title Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry
spellingShingle Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry
Kessler, Michael D
Ascendencia africana
Genética
Populações
Genoma
African ancestry
Genetic
Populations
Genome
title_short Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry
title_full Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry
title_fullStr Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry
title_full_unstemmed Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry
title_sort Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry
author Kessler, Michael D
author_facet Kessler, Michael D
Armstrong, Laura Yerges
Taub, Margaret A
Shetty, Amol C
Maloney, Kristin
Jeng, Linda Jo Bone
Ruczinski, Ingo
Levin, Albert M
Williams, L Keoki
Beaty, Terri H
Mathias, Rasika A
Barnes, Kathleen C
O'Connor, Timothy D
Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA)
author_role author
author2 Armstrong, Laura Yerges
Taub, Margaret A
Shetty, Amol C
Maloney, Kristin
Jeng, Linda Jo Bone
Ruczinski, Ingo
Levin, Albert M
Williams, L Keoki
Beaty, Terri H
Mathias, Rasika A
Barnes, Kathleen C
O'Connor, Timothy D
Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA)
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Kessler, Michael D
Armstrong, Laura Yerges
Taub, Margaret A
Shetty, Amol C
Maloney, Kristin
Jeng, Linda Jo Bone
Ruczinski, Ingo
Levin, Albert M
Williams, L Keoki
Beaty, Terri H
Mathias, Rasika A
Barnes, Kathleen C
O'Connor, Timothy D
Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA)
dc.subject.other.pt_BR.fl_str_mv Ascendencia africana
Genética
Populações
Genoma
topic Ascendencia africana
Genética
Populações
Genoma
African ancestry
Genetic
Populations
Genome
dc.subject.en.pt_BR.fl_str_mv African ancestry
Genetic
Populations
Genome
description Oliveira, Ricardo Riccio. Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Laboratório de Patologia Experimental. Salvador, BA, Brasil. Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) Meher Preethi Boorgula9, Monica Campbell9, Sameer Chavan9, Jean G. Ford8,11, Cassandra Foster9, Li Gao9, Nadia N. Hansel9, Edward Horowitz9, Lili Huang9, Romina Ortiz9, Joseph Potee9, Nicholas Rafaels9, Alan F. Scott9, Candelaria Vergara9, Jingjing Gao12, Yijuan Hu13, Henry Richard Johnston13, Zhaohui S. Qin13, Badri Padhukasahasram6,7, GeorgiaM.Dunston14,15, Mezbah U. Faruque15, Eimear E. Kenny16,17, Kimberly Gietzen18, Mark Hansen18, Rob Genuario18, Dave Bullis18, Cindy Lawley18, Aniket Deshpande19, Wendy E. Grus19, Devin P. Locke19, Marilyn G. Foreman20, Pedro C. Avila21, Leslie Grammer21, Kwang-Youn A. Kim22, Rajesh Kumar23,24, Robert Schleimer25, Carlos Bustamante16, Francisco M. De La Vega16, Chris R. Gignoux16, Suyash S. Shringarpure16, Shaila Musharoff16, Genevieve Wojcik16, Esteban G. Burchard26,27, Celeste Eng27, Pierre-Antoine Gourraud28, Ryan D. Hernandez26,29,30, Antoine Lizee28, Maria Pino-Yanes27,31, Dara G. Torgerson27, Zachary A. Szpiech26, Raul Torres32, Dan L. Nicolae33,34, Carole Ober35, Christopher O. Olopade36, Olufunmilayo I. Olopade33, Oluwafemi Oluwole33, Ganiyu Arinola37, Wei Song1,2,3, Goncalo Abecasis38, Adolfo Correa39, Solomon Musani39, James G.Wilson40, Leslie A. Lange41, Joshua Akey42, Michael Bamshad43, Jessica Chong43, Wenqing Fu42, Deborah Nickerson42, Alexander Reiner44, Tina Hartert45, Lorraine B. Ware45,46, Eugene Bleecker47, Deborah Meyers47, Victor E. Ortega47, Maul R.N. Pissamai48, Maul R.N. Trevor48, Harold Watson49,50, Maria Ilma Araujo51, Ricardo Riccio Oliveira52, Luis Caraballo53, Javier Marrugo54, Beatriz Martinez53, Catherine Meza53, Gerardo Ayestas55, Edwin Francisco Herrera-Paz56,57,58, Pamela Landaverde-Torres56, Said Omar Leiva Erazo56, Rosella Martinez56, Alvaro Mayorga57, Luis F. Mayorga56, Delmy-Aracely Mejia-Mejia57,58, Hector Ramos56, Allan Saenz55, Gloria Varela55, Olga Marina Vasquez58, Trevor Ferguson59, Jennifer Knight-Madden59, Maureen Samms-Vaughan60, Rainford J. Wilks59, Akim Adegnika61,62,63, Ulysse Ateba-Ngoa61,62,63 & Maria Yazdanbakhsh63
publishDate 2016
dc.date.issued.fl_str_mv 2016
dc.date.accessioned.fl_str_mv 2017-04-06T17:10:08Z
dc.date.available.fl_str_mv 2017-04-06T17:10:08Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv KESSLER, M. D. et al. Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry. Nature Communications, v. 7, p. 12521, 2016.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/18298
dc.identifier.issn.pt_BR.fl_str_mv 2041-1723
dc.identifier.doi.none.fl_str_mv 10.1038/ncomms12521
identifier_str_mv KESSLER, M. D. et al. Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry. Nature Communications, v. 7, p. 12521, 2016.
2041-1723
10.1038/ncomms12521
url https://www.arca.fiocruz.br/handle/icict/18298
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Nature Publishing Group
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