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Working toward prec...
Working toward precision medicine : Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
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- Daneshjou, Roxana (author)
- Stanford University
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- Wang, Yanran (author)
- Rutgers University: The State University of New Jersey
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- Bromberg, Yana (author)
- Rutgers University: The State University of New Jersey
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- Bovo, Samuele (author)
- University of Bologna
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- Martelli, Pier Luigi (author)
- University of Bologna
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- Babbi, Giulia (author)
- University of Bologna
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- Lena, Pietro Di (author)
- University of Bologna
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- Casadio, Rita (author)
- University of Bologna
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- Edwards, Matthew (author)
- Massachusetts Institute of Technology
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- Gifford, David (author)
- Massachusetts Institute of Technology
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Jones, David T W (author)
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Sundaram, Laksshman (author)
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Bhat, Rajendra (author)
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Li, Xiaolin (author)
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Pal, Lipika R. (author)
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Kundu, Kunal (author)
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Yin, Yizhou (author)
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Moult, John (author)
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Jiang, Yuxiang (author)
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Pejaver, Vikas R. (author)
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Pagel, Kymberleigh A. (author)
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Li, Biao (author)
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Mooney, Sean D. (author)
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Radivojac, Predrag (author)
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Shah, Sohela (author)
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Carraro, Marco (author)
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Gasparini, Alessandra (author)
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Leonardi, Emanuela (author)
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Giollo, Manuel (author)
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Ferrari, Carlo (author)
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Tosatto, Silvio C.E. (author)
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Bachar, Eran (author)
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Azaria, Johnathan R. (author)
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Ofran, Yanay (author)
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Unger, Ron (author)
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- Niroula, Abhishek (author)
- Lund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Hematogenomics,Protein Bioinformatics,Lund University Research Groups
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- Vihinen, Mauno (author)
- Lund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Protein Bioinformatics,Lund University Research Groups
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Chang, Billy (author)
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Wang, Maggie H. (author)
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Franke, Andre (author)
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Petersen, Britt Sabina (author)
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Pirooznia, Mehdi (author)
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Zandi, Peter (author)
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Mccombie, Richard (author)
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Potash, James B. (author)
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Altman, Russ B. (author)
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Klein, Teri E. (author)
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Hoskins, Roger A. (author)
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Repo, Susanna (author)
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Brenner, Steven E (author)
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- Morgan, Alexander A. (author)
- Stanford University
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(creator_code:org_t)
- 2017-07-07
- 2017
- English.
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 38:9, s. 1182-1192
- Related links:
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http://dx.doi.org/10...
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https://onlinelibrar...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- Precision medicine aims to predict a patient's disease risk and best therapeutic options by using that individual's genetic sequencing data. The Critical Assessment of Genome Interpretation (CAGI) is a community experiment consisting of genotype-phenotype prediction challenges; participants build models, undergo assessment, and share key findings. For CAGI 4, three challenges involved using exome-sequencing data: Crohn's disease, bipolar disorder, and warfarin dosing. Previous CAGI challenges included prior versions of the Crohn's disease challenge. Here, we discuss the range of techniques used for phenotype prediction as well as the methods used for assessing predictive models. Additionally, we outline some of the difficulties associated with making predictions and evaluating them. The lessons learned from the exome challenges can be applied to both research and clinical efforts to improve phenotype prediction from genotype. In addition, these challenges serve as a vehicle for sharing clinical and research exome data in a secure manner with scientists who have a broad range of expertise, contributing to a collaborative effort to advance our understanding of genotype-phenotype relationships.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Annan medicin och hälsovetenskap -- Övrig annan medicin och hälsovetenskap (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Other Medical and Health Sciences -- Other Medical and Health Sciences not elsewhere specified (hsv//eng)
Keyword
- Bipolar disorder
- Crohn's disease
- Exomes
- Machine learning
- Phenotype prediction
- Warfarin
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
To the university's database
- By the author/editor
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Daneshjou, Roxan ...
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Wang, Yanran
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Bromberg, Yana
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Bovo, Samuele
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Martelli, Pier L ...
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Babbi, Giulia
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show more...
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Lena, Pietro Di
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Casadio, Rita
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Edwards, Matthew
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Gifford, David
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Jones, David T W
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Sundaram, Lakssh ...
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Bhat, Rajendra
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Li, Xiaolin
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Pal, Lipika R.
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Kundu, Kunal
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Yin, Yizhou
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Moult, John
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Jiang, Yuxiang
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Pejaver, Vikas R ...
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Pagel, Kymberlei ...
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Li, Biao
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Mooney, Sean D.
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Radivojac, Predr ...
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Shah, Sohela
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Carraro, Marco
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Gasparini, Aless ...
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Leonardi, Emanue ...
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Giollo, Manuel
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Ferrari, Carlo
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Tosatto, Silvio ...
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Bachar, Eran
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Azaria, Johnatha ...
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Ofran, Yanay
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Unger, Ron
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Niroula, Abhishe ...
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Vihinen, Mauno
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Chang, Billy
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Wang, Maggie H.
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Franke, Andre
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Petersen, Britt ...
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Pirooznia, Mehdi
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Zandi, Peter
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Mccombie, Richar ...
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Potash, James B.
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Altman, Russ B.
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Klein, Teri E.
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Hoskins, Roger A ...
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Repo, Susanna
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Brenner, Steven ...
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Morgan, Alexande ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Other Medical an ...
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and Other Medical an ...
- Articles in the publication
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Human Mutation
- By the university
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Lund University