☆ 4.8 Letter

Bias due to selection of rare variants using frequency in controls

NATURE GENETICS (2011)

Journal

NATURE GENETICS

Volume 43, Issue 5, Pages 392-393

Publisher

NATURE PUBLISHING GROUP

DOI: 10.1038/ng.816

Keywords

-

Categories

Genetics & Heredity

Ask authors/readers for more resources

Protocol

Community support

Reagent

Community support

Authors

I am an author on this paper

Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.8

Not enough ratings

Secondary Ratings

Novelty

-

Significance

-

Scientific rigor

-

Rate this paper

Recommended

Article Public, Environmental & Occupational Health

The M-Value: A Simple Sensitivity Analysis for Bias Due to Missing Data in Treatment Effect Estimates

Maya B. Mathur

Summary: We propose sensitivity analyses for complete-case estimates of treatment effects to address biases caused by non-random missing data. These analyses use simple summary data and avoid distributional assumptions. The proposed methods bound the overall treatment effect by considering unobserved treatment effects among nonretained participants and the strengths of confounding associations among retained participants. The introduction of the M-value as an analog to the E-value provides a measure of the strength of confounding associations required to mitigate the treatment effect. These methods can help evaluate the robustness of complete-case analyses to potential biases due to missing data.

AMERICAN JOURNAL OF EPIDEMIOLOGY (2023)

Add to Collection

Article Anesthesiology

Performance of the Hypotension Prediction Index May Be Overestimated Due to Selection Bias

Johannes Enevoldsen, Simon T. Vistisen

Summary: The Hypotension Prediction Index is a prediction model incorporated into an intraoperative hemodynamic monitoring system, using arterial blood pressure waveform to predict hypotension. However, a systematic bias in data selection process may lead to overestimation of future hypotension prediction. Further validation work and updates to the model may be necessary.

ANESTHESIOLOGY (2022)

Add to Collection

Editorial Material Multidisciplinary Sciences

Contribution of rare variants to traits

Luke M. M. Evans, Pamela N. Romero N. Villela

Summary: An analysis of rare genetic variants shows their impact on human traits is mediated through similar biological pathways as common variants, enhancing our understanding of their influence on complex traits.

NATURE (2023)

Add to Collection

Review Rheumatology

Propensity Score Methods in Rare Disease: A Demonstration Using Observational Data in Systemic Lupus Erythematosus

Ibrahim Almaghlouth, Eleanor Pullenayegum, Dafna D. Gladman, Murray B. Urowitz, Sindhu R. Johnson

Summary: Observational studies provide insights into rheumatic conditions, risk factors, and treatment effects, but may have confounding bias. Propensity score methods can help achieve study group balance and reduce confounding effects in rare disease research.

JOURNAL OF RHEUMATOLOGY (2021)

Add to Collection

Article Genetics & Heredity

Use of Multivariable Mendelian Randomization to Address Biases Due to Competing Risk Before Recruitment

C. M. Schooling, P. M. Lopez, Z. Yang, J. V. Zhao, Shiu Lun Au Yeung, Jian V. Huang

Summary: Mendelian randomization studies face challenges in addressing selection bias, but adjusting for common causes of survival and outcome can help improve bias. Multivariable MR estimates for the effect of statins on stroke yielded different conclusions after controlling for major causes of survival and stroke.

FRONTIERS IN GENETICS (2021)

Add to Collection

Article Health Care Sciences & Services

Adjusting for selection bias due to missing data in electronic health records-based research

Sarah B. Peskoe, David Arterburn, Karen J. Coleman, Lisa J. Herrinton, Michael J. Daniels, Sebastien Haneuse

Summary: This study proposes a new framework for researching electronic health records data to better estimate and infer regression models, addressing the selection bias caused by incomplete/missing data. Simulation results show that the proposed methods perform well in small-sample properties, however, researchers need to balance bias and variance when handling missing data.

STATISTICAL METHODS IN MEDICAL RESEARCH (2021)

Add to Collection

Article Genetics & Heredity

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects

Juliana Acosta-Uribe, David Aguillon, J. Nicholas Cochran, Margarita Giraldo, Lucia Madrigal, Bradley W. Killingsworth, Rijul Singhal, Sarah Labib, Diana Alzate, Lina Velilla, Sonia Moreno, Gloria P. Garcia, Amanda Saldarriaga, Francisco Piedrahita, Liliana Hincapie, Hugo E. Lopez, Nithesh Perumal, Leonilde Morelo, Dionis Vallejo, Juan Marcos Solano, Eric M. Reiman, Ezequiel I. Surace, Tatiana Itzcovich, Ricardo Allegri, Raquel Sanchez-Valle, Andres Villegas-Lanau, Charles L. White, Diana Matallana, Richard M. Myers, Sharon R. Browning, Francisco Lopera, Kenneth S. Kosik

Summary: This study focuses on the impact of tri-continental admixture on the mutational landscape of neurodegenerative disorders, using the Colombian population as an example. The results demonstrate that the Colombian population has experienced multiple mini-bottlenecks, resulting in founder effects derived from diverse ancestries.

GENOME MEDICINE (2022)

Add to Collection

Article Ecology

A Generalist Lifestyle Allows Rare Gardnerella spp. to Persist at Low Levels in the Vaginal Microbiome

Salahuddin Khan, Sarah J. Vancuren, Janet E. Hill

Summary: Gardnerella spp. is a hallmark of bacterial vaginosis, with four subgroups identified. Subgroup D is favored by negative frequency-dependent selection in the vaginal microbiome, maintaining its presence through a generalist lifestyle and minimal niche overlap with other Gardnerella spp.

MICROBIAL ECOLOGY (2021)

Add to Collection

Article Multidisciplinary Sciences

People react more positively to female- than to male-favoring sex differences: A direct replication of a counterintuitive finding

Steve Stewart-Williams, Xiu Ling Wong, Chern Yi Marybeth Chang, Andrew G. Thomas

Summary: This study replicated a previous study on how people react to research on sex differences, depending on whether the research benefits men or women. The results showed that both men and women reacted less positively to sex differences that favor men. Belief in male privilege and left-leaning political orientation predicted less positive reactions to male-favoring sex differences. Participants also made predictions about how the average man and woman would react, and they exaggerated the own-sex favoritism of women and predicted strong own-sex favoritism from men, when in reality men showed modest other-sex favoritism. Understanding people's tendency to exaggerate own-sex bias can help reduce conflict between the sexes.

PLOS ONE (2022)

Add to Collection

Article Oncology

Selection bias due to delayed comprehensive genomic profiling in Japan

Taichi Tamura, Masachika Ikegami, Yusuke Kanemasa, Makiko Yomota, Akiko Furusawa, Ryohei Otani, Chiaki Saita, Ichiro Yonese, Tomoko Onishi, Hiroshi Kobayashi, Toru Akiyama, Tatsu Shimoyama, Tomoyuki Aruga, Tatsuro Yamaguchi

Summary: In Japan, patients with advanced cancer only undergo comprehensive genomic profiling after treatment options have been exhausted. However, length bias may affect the accuracy of survival analysis, and no appropriate methods for adjusting this bias have been developed. This study established a simulation-based model for length bias adjustment and found that patients who underwent profiling tests early had a worse prognosis. Adjusting for length bias allowed for the analysis of prognostic relevance of oncogenic mutations and treatments.

CANCER SCIENCE (2023)

Add to Collection

Article Public, Environmental & Occupational Health

Reducing Bias Due to Exposure Measurement Error Using Disease Risk Scores

David B. Richardson, Alexander P. Keil, Stephen R. Cole, Jessie K. Edwards

Summary: The study proposed an approach to estimate the marginal exposure-outcome association in the presence of classical exposure measurement error, showing that it suffers less bias compared to the covariate-conditional estimate when covariates are predictors of exposure. Additionally, if an exposure validation study is available, the proposed marginal estimate can correct for measurement error more efficiently than the covariate-conditional estimate.

AMERICAN JOURNAL OF EPIDEMIOLOGY (2021)

Add to Collection

Article Biology

Distinct responses to rare codons in select Drosophila tissues

Scott R. Allen, Rebeccah K. Stewart, Michael Rogers, Ivan Jimenez Ruiz, Erez Cohen, Alain Laederach, Christopher M. Counter, Jessica K. Sawyer, Donald T. Fox

Summary: Codon usage bias plays a critical role in protein production and tissue-specific gene expression. This study investigates the impact of codon usage on tissue-specific mRNA and protein expression using codon-modified reporters in Drosophila melanogaster. The results reveal distinct tissue responses to codon usage bias, with the testis and brain being capable of expressing rare codon-enriched reporters. The findings also demonstrate conserved enrichment for rare codon usage in the endogenously expressed genes of both Drosophila and human testis, highlighting the importance of codon bias in tissue biology.

ELIFE (2022)

Add to Collection

Article Medicine, General & Internal

ROB-MEN: a tool to assess risk of bias due to missing evidence in network meta-analysis

Virginia Chiocchia, Adriani Nikolakopoulou, Julian P. T. Higgins, Matthew J. Page, Theodoros Papakonstantinou, Andrea Cipriani, Toshi A. Furukawa, George C. M. Siontis, Matthias Egger, Georgia Salanti

Summary: ROB-MEN is a tool designed to assess the risk of bias due to missing evidence in network meta-analysis, applicable to networks of varying sizes and geometries. The methodology of ROB-MEN has been outlined through step-by-step instructions and validated through application to existing studies, demonstrating its effectiveness.

BMC MEDICINE (2021)

Add to Collection

Article Multidisciplinary Sciences

Facial emotion recognition in patients with depression compared to healthy controls when using human avatars

Marta Monferrer, Arturo S. Garcia, Jorge J. Ricarte, Maria J. Montes, Antonio Fernandez-Caballero, Patricia Fernandez-Sotos

Summary: This study focuses on the assessment of facial recognition of emotions in patients with depression through a new set of dynamic virtual faces (DVFs). The findings show that patients with depression have worse performance in facial affect recognition compared to healthy controls.

SCIENTIFIC REPORTS (2023)

Add to Collection

Article Genetics & Heredity

A novel statistical method for interpreting the pathogenicity of rare variants

Jun Wang, Hehe Liu, Renae Elaine Bertrand, Alejandro Sarrion-Perdigones, Gonzalez Yezabel, Koen J. T. Venken, Rui Chen

Summary: To achieve personalized treatment for patients, accurate molecular diagnosis and interpretation of genetic variants impact on gene function is crucial. A new statistical test combining patient cohort sequencing data with a normal control population database has been developed to identify likely benign variants, showing promising results in filtering low frequency variants in the normal population.

GENETICS IN MEDICINE (2021)

Add to Collection

Article Immunology

Genomic Analysis of Plasmodium vivax in Southern Ethiopia Reveals Selective Pressures in Multiple Parasite Mechanisms

Sarah Auburn, Sisay Getachew, Richard D. Pearson, Roberto Amato, Olivo Miotto, Hidayat Trimarsanto, Sha Joe Zhu, Angela Rumaseb, Jutta Marfurt, Rintis Noviyanti, Matthew J. Grigg, Bridget Barber, Timothy William, Sonia Morgado Goncalves, Eleanor Drury, Kanlaya Sriprawat, Nicholas M. Anstey, Francois Nosten, Beyene Petros, Abraham Aseffa, Gil McVean, Dominic P. Kwiatkowski, Ric N. Price

JOURNAL OF INFECTIOUS DISEASES (2019)

Add to Collection

Correction Multidisciplinary Sciences

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (vol 9, 1864, 2018)

Adriana I. Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, Rene Hoehn, Henriet Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N. Cooke Bailey, Colin E. Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P. Khawaja, Ozren Polasek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L. Haines, Lisa S. Kearns, Caroline Hayward, Yuan Shi, Elisabeth M. van Leeuwen, Kent D. Taylor, Pieter Bonnemaijer, Jerome I. Rotter, Nicholas G. Martin, Tanja Zeller, Richard A. Mills, Emmanuelle Souzeau, Sandra E. Staffieri, Jost B. Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H. Kang, Sionne E. M. Lucas, Tien Yin Wong, Manfred E. Beutel, James F. Wilson, Andre G. Uitterlinden, Eranga N. Vithana, Paul J. Foster, Pirro G. Hysi, Alex W. Hewitt, Chiea Chuen Khor, Louis R. Pasquale, Grant W. Montgomery, Caroline C. W. Klaver, Tin Aung, Norbert Pfeiffer, David A. Mackey, Christopher J. Hammond, Ching-Yu Cheng, Jamie E. Craig, Yaron S. Rabinowitz, Janey L. Wiggs, Kathryn P. Burdon, Cornelia M. van Duijn, Stuart MacGregor, Jie Jin Wang, Elena Rochtchina, John Attia, Rodney Scott, Elizabeth G. Holliday, Tien Yin Wong, Paul N. Baird, Jing Xie, Michael Inouye, Ananth Viswanathan, Xueling Sim, R. Rand Allingham, Murray H. Brilliant, Donald L. Budenz, William G. Christen, John Fingert, David S. Friedman, Douglas Gaasterland, Terry Gaasterland, Michael A. Hauser, Peter Kraft, Richard K. Lee, Paul R. Lichter, Yutao Liu, Stephanie J. Loomis, Sayoko E. Moroi, Margaret A. Pericak-Vance, Anthony Realini, Julia E. Richards, Joel S. Schuman, William K. Scott, Kuldev Singh, Arthur J. Sit, Douglas Vollrath, Robert N. Weinreb, Gadi Wollstein, Donald J. Zack, Kang Zhang, Peter Donnelly, Ines Barroso, Jenefer M. Blackwell, Elvira Bramon, Matthew A. Brown, Juan P. Casas, Aiden Corvin, Panos Deloukas, Audrey Duncanson, Janusz Jankowski, Hugh S. Markus, Christopher G. Mathew, Colin N. A. Palmer, Robert Plomin, Anna Rautanen, Stephen J. Sawcer, Richard C. Trembath, Nicholas W. Wood, Chris C. A. Spencer, Gavin Band, Celine Bellenguez, Colin Freeman, Garrett Hellenthal, Eleni Giannoulatou, Matti Pirinen, Richard Pearson, Amy Strange, Zhan Su, Damjan Vukcevic, Cordelia Langford, Sarah E. Hunt, Sarah Edkins, Rhian Gwilliam, Hannah Blackburn, Suzannah J. Bumpstead, Serge Dronov, Matthew Gillman, Emma Gray, Naomi Hammond, Alagurevathi Jayakumar, Owen T. McCann, Jennifer Liddle, Simon C. Potter, Radhi Ravindrarajah, Michelle Ricketts, Matthew Waller, Paul Weston, Sara Widaa, Pamela Whittaker

NATURE COMMUNICATIONS (2019)

Add to Collection

Article Genetics & Heredity

Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia

Denise Harold, Siobhan Connolly, Brien P. Riley, Kenneth S. Kendler, Shane E. McCarthy, William R. McCombie, Alex Richards, Michael J. Owen, Michael C. O'Donovan, James Walters, Peter Donnelly, Lesley Bates, Ines Barroso, Jenefer M. Blackwell, Elvira Bramon, Matthew A. Brown, Juan P. Casas, Aiden Corvin, Panos Deloukas, Audrey Duncanson, Janusz Jankowski, Hugh S. Markus, Christopher G. Mathew, Colin N. A. Palmer, Robert Plomin, Anna Rautanen, Stephen J. Sawcer, Richard C. Trembath, Ananth C. Viswanathan, Nicholas W. Wood, Chris C. A. Spencer, Gavin Band, Celine Bellenguez, Colin Freeman, Garrett Hellenthal, Eleni Giannoulatou, Lucinda Hopkins, Matti Pirinen, Richard Pearson, Amy Strange, Zhan Su, Damjan Vukcevic, Cordelia Langford, Sarah E. Hunt, Sarah Edkins, Rhian Gwilliam, Hannah Blackburn, Suzannah J. Bumpstead, Serge Dronov, Matthew Gillman, Emma Gray, Naomi Hammond, Alagurevathi Jayakumar, Owen T. McCann, Jennifer Liddle, Simon C. Potter, Radhi Ravindrarajah, Michelle Ricketts, Matthew Waller, Paul Weston, Sara Widaa, Pamela Whittaker, Stephan Ripke, Benjamin M. Neale, Aiden Corvin, James T. R. Walters, Kai-How Farh, Peter A. Holmans, Phil Lee, Brendan Bulik-Sullivan, David A. Collier, Hailiang Huang, Tune H. Pers, Ingrid Agartz, Esben Agerbo, Margot Albus, Made-Line Alexander, Farooq Amin, Silviu A. Bacanu, Martin Begemann, Richard A. Belliveau, Judit Bene, Sarah E. Bergen, Elizabeth Bevilacqua, Tim B. Bigdeli, Donald W. Black, Richard Bruggeman, Nancy G. Buccola, Randy L. Buckner, William Byerley, Wiepke Cahn, Guiqing Cai, Dominique Campion, Rita M. Cantor, Vaughan J. Carr, Noa Carrera, Stanley V. Catts, Kimberley D. Chambert, Raymond C. K. Chan, Ronald Y. L. Chan, Eric Y. H. Chen, Wei Cheng, Eric F. C. Cheung, Siow Ann Chong, C. Robert Cloninger, David Cohen, Nadine Cohen, Paul Cormican, Nick Craddock, James J. Crowley, David Curtis, Michael Davidson, Kenneth L. Davis, Franziska Degenhardt, Jurgen Del Favero, Ditte Demontis, Dimitris Dikeos, Timothy Dinan, Srdjan Djurovic, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Naser Durmishi, Peter Eichhammer, Johan Eriksson, Valentina Escott-Price, Laurent Essioux, Ayman H. Fanous, Martilias S. Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B. Freimer, Marion Friedl, Joseph I. Friedman, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Ina Giegling, Paola Giusti-Rodriguez, Stephanie Godard, Jacqueline I. Goldstein, Vera Golimbet, Srihari Gopal, Jacob Gratten, Lieuwe de Haan, Christian Hammer, Marian L. Hamshere, Mark Hansen, Thomas Hansen, Vahram Haroutunian, Annette M. Hartmann, Frans A. Henskens, Stefan Herms, Joel N. Hirschhorn, Per Hoffmann, Andrea Hofman, Mads V. Hollegaard, David M. Hougaard, Masashi Ikeda, Inge Joa, Antonio Julia, Luba Kalaydjieva, Sena Karachanak-Yankova, Juha Karjalainen, David Kavanagh, Matthew C. Keller, James L. Kennedy, Andrey Khrunin, Yunjung Kim, Janis Klovins, James A. Knowles, Bettina Konte, Vaidutis Kucinskas, Zita Ausrele Kucinskiene, Hana Kuzelova-Ptackova, Anna K. Kahler, Claudine Laurent, Jimmy Lee, S. Hong Lee, Sophie E. Legge, Bernard Lerer, Miaoxin Li, Tao Li, Kung-Yee Liang, Jeffrey Lieberman, Svetlana Limborska, Carmel M. Loughland, Jan Lubinski, Jouko Lonnqvist, Milan Macek, Patrik K. E. Magnusson, Brion S. Maher, Wolfgang Maier, Jacques Mallet, Sara Marsal, Manuel Mattheisen, Morten Mattingsdal, Robert W. McCarley, Colm McDonald, Andrew M. McIntosh, Sandra Meier, Carin J. Meijer, Bela Melegh, Ingrid Melle, Raquelle I. Mesholam-Gately, Andres Metspalu, Patricia T. Michie, Lili Milani, Vihra Milanova, Younes Mokrab, Derek W. Morris, Ole Mors, Kieran C. Murphy, Robin M. Murray, Inez Myin-Germeys, Bertram Muller-Myhsok, Mari Nelis, Igor Nenadic, Deborah A. Nertney, Gerald Nestadt, Kristin K. Nicodemus, Liene Nikitina-Zake, Laura Nisenbaum, Annelie Nordin, Eadbhard O'Callaghan, Colm O'Dushlaine, F. Anthony O'Neill, Sang-Yun Oh, Ann Olincy, Line Olsen, Jim Van Os, Christos Pantelis, George N. Papadimitriou, Sergi Papiol, Elena Parkhomenko, Michele T. Pato, Tiina Paunio, Milica Pejovic-Milovancevic, Diana O. Perkins, Olli Pietilainen, Jonathan Pimm, Andrew J. Pocklington, Alkes Price, Ann E. Pulver, Shaun M. Purcell, Digby Quested, Henrik B. Rasmussen, Abraham Reichenberg, Mark A. Reimers, Alexander L. Richards, Joshua L. Roffman, Panos Roussos, Douglas M. Ruderfer, Veikko Salomaa, Alan R. Sanders, Ulrich Schall, Christian R. Schubert, Thomas G. Schulze, Sibylle G. Schwab, Edward M. Scolnick, Rodney J. Scott, Larry J. Seidman, Jianxin Shi, Engilbert Sigurdsson, Teimuraz Silagadze, Jeremy M. Silverman, Kang Sim, Petr Slominsky, Jordan W. Smoller, Hon-Cheong So, Chris C. A. Spencer, Eli A. Stahl, Hreinn Stefansson, Stacy Steinberg, Elisabeth Stogmann, Richard E. Straub, Eric Strengman, Jana Strohmaier, T. Scott Stroup, Mythily Subramaniam, Jaana Suvisaari, Dragan M. Svrakic, Jin P. Szatkiewicz, Erik Soderman, Srinivas Thirumalai, Draga Toncheva, Sarah Tosato, Juha Veijola, John Waddington, Dermot Walsh, Dai Wang, Qiang Wang, Bradley T. Webb, Mark Weiser, Dieter B. Wildenauer, Nigel M. Williams, Stephanie Williams, Stephanie H. Witt, Aaron R. Wolen, Emily H. M. Wong, Brandon K. Wormley, Hualin Simon Xi, Clement C. Zai, Xuebin Zheng, Fritz Zimprich, Naomi R. Wray, Kari Stefansson, Peter M. Visscher, Rolf Adolfsson, Ole A. Andreassen, Douglas H. R. Blackwood, Elvira Bramon, Joseph D. Buxbaum, Anders D. Borglum, Ariel Darvasi, Enrico Domenici, Hannelore Ehrenreich, Tonu Esko, Pablo V. Gejman, Michael Gill, Hugh Gurling, Christina M. Hultman, Nakao Iwata, Assen V. Jablensky, Erik G. Jonsson, Kenneth S. Kendler, George Kirov, Jo Knight, Todd Lencz, Douglas F. Levinson, Qingqin S. Li, Jianjun Liu, Anil K. Malhotra, Steven A. McCarroll, Andrew McQuillin, Jennifer L. Moran, Preben B. Mortensen, Bryan J. Mowry, Michael J. Owen, Aarno Palotie, Carlos N. Pato, Tracey L. Petryshen, Danielle Posthuma, Brien P. Riley, Dan Rujescu, Pak C. Sham, Pamela Sklar, David St Clair, Daniel R. Weinberger, Jens R. Wendland, Thomas Werge, Mark J. Daly, Patrick F. Sullivan, Michael C. O'Donovan, Gary Donohoe, Michael Gill, Aiden Corvin, Derek W. Morris

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2019)

Add to Collection

Article Infectious Diseases

Evolution and expansion of multidrug-resistant malaria in southeast Asia: a genomic epidemiology study

William L. Hamilton, Roberto Amato, Rob W. van der Pluijm, Christopher G. Jacob, Huynh Hong Quang, Nguyen Thanh Thuy-Nhien, Tran Tinh Hien, Bouasy Hongvanthong, Keobouphaphone Chindavongsa, Mayfong Mayxay, Rekol Huy, Rithea Leang, Cheah Huch, Lek Dysoley, Chanaki Amaratunga, Seila Suon, Rick M. Fairhurst, Rupam Tripura, Thomas J. Peto, Yok Sovann, Podjanee Jittamala, Borimas Hanboonkunupakarn, Sasithon Pukrittayakamee, Nguyen Hoang Chau, Mallika Imwong, Mehul Dhorda, Ranitha Vongpromek, Xin Hui S. Chan, Richard J. Maude, Richard D. Pearson, T. Nguyen, Kirk Rockett, Eleanor Drury, Sonia Goncalves, Nicholas J. White, Nicholas P. Day, Dominic P. Kwiatkowski, Arjen M. Dondorp, Olivo Miotto

LANCET INFECTIOUS DISEASES (2019)

Add to Collection

Article Infectious Diseases

Frequent expansion of Plasmodium vivax Duffy Binding Protein in Ethiopia and its epidemiological significance

Eugenia Lo, Jessica B. Hostetler, Delenasaw Yewhalaw, Richard D. Pearson, Muzamil M. A. Hamid, Karthigayan Gunalan, Daniel Kepple, Anthony Ford, Daniel A. Janies, Julian C. Rayner, Louis H. Miller, Guiyun Yan

PLOS NEGLECTED TROPICAL DISEASES (2019)

Add to Collection

Article Medicine, General & Internal

Triple artemisinin-based combination therapies versus artemisinin-based combination therapies for uncomplicated Plasmodium falciparum malaria: a multicentre, open-label, randomised clinical trial

Rob W. van der Pluijm, Rupam Tripura, Richard M. Hoglund, Aung Pyae Phyo, Dysoley Lek, Akhter Ul Islam, Anupkumar R. Anvikar, Parthasarathi Satpathi, Sanghamitra Satpathi, Prativa Kumari Behera, Amar Tripura, Subrata Baidya, Marie Onyamboko, Nguyen Hoang Chau, Yok Sovann, Seila Suon, Sokunthea Sreng, Sivanna Mao, Savuth Oun, Sovannary Yen, Chanaki Amaratunga, Kitipumi Chutasmit, Chalermpon Saelow, Ratchadaporn Runcharern, Weerayuth Kaewmok, Nhu Thi Hoa, Ngo Viet Thanh, Borimas Hanboonkunupakarn, James J. Callery, Akshaya Kumar Mohanty, James Heaton, Myo Thant, Kripasindhu Gantait, Tarapada Ghosh, Roberto Amato, Richard D. Pearson, Christopher G. Jacob, Sonia Goncalves, Mavuto Mukaka, Naomi Waithira, Charles J. Woodrow, Martin P. Grobusch, Michele van Vugt, Rick M. Fairhurst, Phaik Yeong Cheah, Thomas J. Peto, Lorenz von Seidlein, Mehul Dhorda, Richard J. Maude, Markus Winterberg, Nguyen Thanh Thuy-Nhien, Dominic P. Kwiatkowski, Mallika Imwong, Podjanee Jittamala, Khin Lin, Tin Maung Hlaing, Kesinee Chotivanich, Rekol Huy, Caterina Fanello, Elizabeth Ashley, Mayfong Mayxay, Paul N. Newton, Tran Tinh Hien, Neena Valecha, Frank Smithuis, Sasithon Pukrittayakamee, Abul Faiz, Olivo Miotto, Joel Tarning, Nicholas P. J. Day, Nicholas J. White, Arjen M. Dondorp

LANCET (2020)

Add to Collection

Article Infectious Diseases

Genetic diversity and neutral selection in Plasmodium vivax erythrocyte binding protein correlates with patient antigenicity

Jin-Hee Han, Jee-Sun Cho, Jessica J. Y. Ong, Ji-Hoon Park, Myat Htut Nyunt, Edwin Sutanto, Hidayat Trimarsanto, Beyene Petros, Abraham Aseffa, Sisay Getachew, Kanlaya Sriprawat, Nicholas M. Anstey, Matthew J. Grigg, Bridget E. Barber, Timothy William, Gao Qi, Yaobao Liu, Richard D. Pearson, Sarah Auburn, Ric N. Price, Francois Nosten, Laurent Renia, Bruce Russell, Eun-Taek Han

PLOS NEGLECTED TROPICAL DISEASES (2020)

Add to Collection

Article Infectious Diseases

Whole genome sequencing of Plasmodium vivax isolates reveals frequent sequence and structural polymorphisms in erythrocyte binding genes

Anthony Ford, Daniel Kepple, Beka Raya Abagero, Jordan Connors, Richard Pearson, Sarah Auburn, Sisay Getachew, Colby Ford, Karthigayan Gunalan, Louis H. Miller, Daniel A. Janies, Julian C. Rayner, Guiyun Yan, Delenasaw Yewhalaw, Eugenia Lo

PLOS NEGLECTED TROPICAL DISEASES (2020)

Add to Collection

Article Microbiology

Emergence of artemisinin-resistant Plasmodium falciparum with kelch13 C580Y mutations on the island of New Guinea

Olivo Miotto, Makoto Sekihara, Shin-Ichiro Tachibana, Masato Yamauchi, Richard D. Pearson, Roberto Amato, Sonia Goncalves, Somya Mehra, Rintis Noviyanti, Jutta Marfurt, Sarah Auburn, Ric N. Price, Ivo Mueller, Mie Ikeda, Toshiyuki Mori, Makoto Hirai, Livingstone Tavul, Manuel W. Hetzel, Moses Laman, Alyssa E. Barry, Pascal Ringwald, Jun Ohashi, Francis Hombhanje, Dominic P. Kwiatkowski, Toshihiro Mita

PLOS PATHOGENS (2020)

Add to Collection

Article Biology

Genetic surveillance in the Greater Mekong subregion and South Asia to support malaria control and elimination

Christopher G. Jacob, Nguyen Thuy-Nhien, Mayfong Mayxay, Richard J. Maude, Huynh Hong Quang, Bouasy Hongvanthong, Viengxay Vanisaveth, Thang Ngo Duc, Huy Rekol, Rob van der Pluijm, Lorenz von Seidlein, Rick Fairhurst, Francois Nosten, Md Amir Hossain, Naomi Park, Scott Goodwin, Pascal Ringwald, Keobouphaphone Chindavongsa, Paul Newton, Elizabeth Ashley, Sonexay Phalivong, Rapeephan Maude, Rithea Leang, Cheah Huch, Le Thanh Dong, Kim-Tuyen Nguyen, Tran Minh Nhat, Tran Tinh Hien, Hoa Nguyen, Nicole Zdrojewski, Sara Canavati, Abdullah Abu Sayeed, Didar Uddin, Caroline Buckee, Caterina Fanello, Marie Onyamboko, Thomas Peto, Rupam Tripura, Chanaki Amaratunga, Aung Myint Thu, Gilles Delmas, Jordi Landier, Daniel M. Parker, Nguyen Hoang Chau, Dysoley Lek, Seila Suon, James Callery, Podjanee Jittamala, Borimas Hanboonkunupakarn, Sasithon Pukrittayakamee, Aung Pyae Phyo, Frank Smithuis, Khin Lin, Myo Thant, Tin Maung Hlaing, Parthasarathi Satpathi, Sanghamitra Satpathi, Prativa K. Behera, Amar Tripura, Subrata Baidya, Neena Valecha, Anupkumar R. Anvikar, Akhter Ul Islam, Abul Faiz, Chanon Kunasol, Eleanor Drury, Mihir Kekre, Mozam Ali, Katie Love, Shavanthi Rajatileka, Anna E. Jeffreys, Kate Rowlands, Christina S. Hubbart, Mehul Dhorda, Ranitha Vongpromek, Namfon Kotanan, Phrutsamon Wongnak, Jacob Almagro Garcia, Richard D. Pearson, Cristina Ariani, Thanat Chookajorn, Cinzia Malangone, T. Nguyen, Jim Stalker, Ben Jeffery, Jonathan Keatley, Kimberly J. Johnson, Dawn Muddyman, Xin Hui S. Chan, John Sillitoe, Roberto Amato, Victoria Simpson, Sonia Goncalves, Kirk Rockett, Nicholas P. Day, Arjen M. Dondorp, Dominic P. Kwiatkowski, Olivo Miotto

Summary: GenRe-Mekong is a platform for genetic surveillance of malaria in the Greater Mekong Subregion, providing valuable insights and aiding decision-making for NMCPs. It offers detailed knowledge about drug resistance, facilitates data sharing, and enables cross-border resistance monitoring, benefiting the malaria community as a whole.

ELIFE (2021)

Add to Collection

Article Multidisciplinary Sciences

Malaria protection due to sickle haemoglobin depends on parasite genotype

Gavin Band, Ellen M. Leffler, Muminatou Jallow, Fatoumatta Sisay-Joof, Carolyne M. Ndila, Alexander W. Macharia, Christina Hubbart, Anna E. Jeffreys, Kate Rowlands, Thuy Nguyen, Sonia Goncalves, Cristina Ariani, Jim Stalker, Richard D. Pearson, Roberto Amato, Eleanor Drury, Giorgio Sirugo, Umberto D'Alessandro, Kalifa A. Bojang, Kevin Marsh, Norbert Peshu, Joseph W. Saelens, Mahamadou Diakite, Steve M. Taylor, David J. Conway, Thomas N. Williams, Kirk A. Rockett, Dominic P. Kwiatkowski

Summary: This study found a strong association between host sickle haemoglobin (HbS) and three regions of the parasite genome, which is replicated in additional samples. The protective effect of HbS against severe malaria varies greatly according to the parasite genotype at these three loci, suggesting an evolutionary adaptation of parasite populations to host genetic factors.

NATURE (2022)

Add to Collection

Article Biology

A molecular barcode and web-based data analysis tool to identify imported Plasmodium vivax malaria

Hidayat Trimarsanto, Roberto Amato, Richard D. Pearson, Edwin Sutanto, Rintis Noviyanti, Leily Trianty, Jutta Marfurt, Zuleima Pava, Diego F. Echeverry, Tatiana M. Lopera-Mesa, Lidia M. Montenegro, Alberto Tobon-Castano, Matthew J. Grigg, Bridget Barber, Timothy William, Nicholas M. Anstey, Sisay Getachew, Beyene Petros, Abraham Aseffa, Ashenafi Assefa, Awab G. Rahim, Nguyen H. Chau, Tran T. Hien, Mohammad S. Alam, Wasif A. Khan, Benedikt Ley, Kamala Thriemer, Sonam Wangchuck, Yaghoob Hamedi, Ishag Adam, Yaobao Liu, Qi Gao, Kanlaya Sriprawat, Marcelo U. Ferreira, Moses Laman, Alyssa Barry, Ivo Mueller, Marcus V. G. Lacerda, Alejandro Llanos-Cuentas, Srivicha Krudsood, Chanthap Lon, Rezika Mohammed, Daniel Yilma, Dhelio B. Pereira, Fe E. J. Espino, Cindy S. Chu, Ivan D. Velez, Chayadol Namaik-larp, Maria F. Villegas, Justin A. Green, Gavin Koh, Julian C. Rayner, Eleanor Drury, Sonia Goncalves, Victoria Simpson, Olivo Miotto, Alistair Miles, Nicholas J. White, Francois Nosten, Dominic P. Kwiatkowski, Ric N. Price, Sarah Auburn

Summary: Traditionally, patient travel history has been used to distinguish imported from autochthonous malaria cases. However, the presence of dormant liver stages of Plasmodium vivax complicates this approach. This study proposes molecular tools and machine learning methods to identify and map imported cases, offering an alternative approach to traditional methods.

COMMUNICATIONS BIOLOGY (2022)

Add to Collection

Article Multidisciplinary Sciences

Generation of a mutator parasite to drive resistome discovery in Plasmodium falciparum

Krittikorn Kumpornsin, Theerarat Kochakarn, Tomas Yeo, John Okombo, Madeline R. Luth, Johanna Hoshizaki, Mukul Rawat, Richard D. Pearson, Kyra A. Schindler, Sachel Mok, Heekuk Park, Anne-Catrin Uhlemann, Gouranga P. Jana, Bikash C. Maity, Benoit Laleu, Elodie Chenu, James Duffy, Sonia Moliner Cubel, Virginia Franco, Maria G. Gomez-Lorenzo, Francisco Javier Gamo, Elizabeth A. Winzeler, David A. Fidock, Thanat Chookajorn, Marcus C. S. Lee

Summary: By editing the catalytic residues of Plasmodium falciparum DNA polymerase delta, parasite genetic diversity and resistance to antimalarial drugs can be enhanced. Mutation accumulation assays show a significant increase in mutation rate, particularly under drug pressure. Through selections, high-level resistance to both known and previously resistant compounds can be obtained, and the causal mutations can be identified. This mutator parasite provides a valuable genetic repertoire for discovering the P. falciparum resistome.

NATURE COMMUNICATIONS (2023)

Add to Collection

Article Biology

Intrinsic multiplication rate variation and plasticity of human blood stage malaria parasites

Lindsay B. Stewart, Ofelia Diaz-Ingelmo, Antoine Claessens, James Abugri, Richard D. Pearson, Sonia Goncalves, Eleanor Drury, Dominic P. Kwiatkowski, Gordon A. Awandare, David J. Conway

COMMUNICATIONS BIOLOGY (2020)

Add to Collection

Meeting Abstract Public, Environmental & Occupational Health

EMERGENCE OF ARTEMISININ-RESISTANT PLASMODIUM FALCIPARUM WITH KELCH13 C580Y MUTATIONS IN PAPUA NEW GUINEA

Olivo Miotto, Makoto Sekihara, Shin-Ichiro Tachibana, Masato Yamauchi, Mie Ikeda, Toshiyuki Mori, Makoto Hirai, Richard D. Pearson, Roberto Amato, Sonia Morgado Goncalves, Rintis Noviyanti, Jutta Marfurt, Sarah Auburn, Ric Price, Ivo Mueller, Alyssa Barry, Moses Laman, Livingstone Tavul, Manuel Hetzel, Pascal Ringwald, Jun Ohashi, Francis Hombhanje, Dominic P. Kwiatkowski, Toshihiro Mita

AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE (2019)

Add to Collection

No Data Available

© Peeref 2019-2024. All rights reserved.