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  • Daneshjou, RoxanaStanford University (author)

Working toward precision medicine : Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

  • Article/chapterEnglish2017

Publisher, publication year, extent ...

  • 2017-07-07
  • Hindawi Limited,2017

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:0a757bc7-434c-4f8c-a451-0d486b06bcaa
  • https://lup.lub.lu.se/record/0a757bc7-434c-4f8c-a451-0d486b06bcaaURI
  • https://doi.org/10.1002/humu.23280DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Wang, YanranRutgers University: The State University of New Jersey (author)
  • Bromberg, YanaRutgers University: The State University of New Jersey (author)
  • Bovo, SamueleUniversity of Bologna (author)
  • Martelli, Pier LuigiUniversity of Bologna (author)
  • Babbi, GiuliaUniversity of Bologna (author)
  • Lena, Pietro DiUniversity of Bologna (author)
  • Casadio, RitaUniversity of Bologna (author)
  • Edwards, MatthewMassachusetts Institute of Technology (author)
  • Gifford, DavidMassachusetts Institute of Technology (author)
  • Jones, David T W (author)
  • Sundaram, Laksshman (author)
  • Bhat, Rajendra (author)
  • Li, Xiaolin (author)
  • Pal, Lipika R. (author)
  • Kundu, Kunal (author)
  • Yin, Yizhou (author)
  • Moult, John (author)
  • Jiang, Yuxiang (author)
  • Pejaver, Vikas R. (author)
  • Pagel, Kymberleigh A. (author)
  • Li, Biao (author)
  • Mooney, Sean D. (author)
  • Radivojac, Predrag (author)
  • Shah, Sohela (author)
  • Carraro, Marco (author)
  • Gasparini, Alessandra (author)
  • Leonardi, Emanuela (author)
  • Giollo, Manuel (author)
  • Ferrari, Carlo (author)
  • Tosatto, Silvio C.E. (author)
  • Bachar, Eran (author)
  • Azaria, Johnathan R. (author)
  • Ofran, Yanay (author)
  • Unger, Ron (author)
  • Niroula, AbhishekLund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Hematogenomics,Protein Bioinformatics,Lund University Research Groups(Swepub:lu)med-anu (author)
  • Vihinen, MaunoLund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Protein Bioinformatics,Lund University Research Groups(Swepub:lu)med-mnv (author)
  • Chang, Billy (author)
  • Wang, Maggie H. (author)
  • Franke, Andre (author)
  • Petersen, Britt Sabina (author)
  • Pirooznia, Mehdi (author)
  • Zandi, Peter (author)
  • Mccombie, Richard (author)
  • Potash, James B. (author)
  • Altman, Russ B. (author)
  • Klein, Teri E. (author)
  • Hoskins, Roger A. (author)
  • Repo, Susanna (author)
  • Brenner, Steven E (author)
  • Morgan, Alexander A.Stanford University (author)
  • Stanford UniversityRutgers University: The State University of New Jersey (creator_code:org_t)

Related titles

  • In:Human Mutation: Hindawi Limited38:9, s. 1182-11921059-77941098-1004

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