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Research Article

A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families

  • Bingshan Li mail,

    bingshan.li@vanderbilt.edu (BL); goncalo@umich.edu (GA)

    Affiliation: Center for Human Genetics Research, Department of Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, United States of America

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  • Wei Chen,

    Affiliation: Department of Pediatrics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States of America

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  • Xiaowei Zhan,

    Affiliation: Center for Statistical Genetics, Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, Michigan, United States of America

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  • Fabio Busonero,

    Affiliations: Center for Statistical Genetics, Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, Michigan, United States of America, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Italy

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  • Serena Sanna,

    Affiliation: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Italy

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  • Carlo Sidore,

    Affiliation: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Italy

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  • Francesco Cucca,

    Affiliation: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Italy

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  • Hyun M. Kang,

    Affiliation: Center for Statistical Genetics, Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, Michigan, United States of America

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  • Gonçalo R. Abecasis mail

    bingshan.li@vanderbilt.edu (BL); goncalo@umich.edu (GA)

    Affiliation: Center for Statistical Genetics, Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, Michigan, United States of America

    X
  • Published: October 04, 2012
  • DOI: 10.1371/journal.pgen.1002944

About the Authors

Bingshan Li
Center for Human Genetics Research, Department of Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, United States of America
Wei Chen
Department of Pediatrics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
Xiaowei Zhan, Fabio Busonero, Hyun M. Kang, Gonçalo R. Abecasis
Center for Statistical Genetics, Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, Michigan, United States of America
Fabio Busonero, Serena Sanna, Carlo Sidore, Francesco Cucca
Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Italy

Corresponding Authors

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: BL GRA. Performed the experiments: BL WC XZ. Analyzed the data: BL WC XZ CS. Contributed reagents/materials/analysis tools: FB SS CS FC HMK. Wrote the paper: BL GRA.