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Molecular Pathology in Clinical Practice pp 61–72Cite as

Bayesian Analysis

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Abstract

The purpose of this chapter is to describe basic and general principles of Bayesian analysis for molecular pathologists. Thomas Bayes first described the theorem named after him in an essay on “the doctrine of chances,” published posthumously in 1763, and republished in 1958.1 Analyses based on Bayes’ theorem are routinely applied to calculate probabilities in a wide variety of circumstances, not limited to medicine or genetics. In molecular pathology, Bayesian analysis is commonly used to calculate genetic risk, incorporating population data, pedigree information, and genetic testing results. First, Bayesian analysis will be introduced with two simple, concrete examples. In subsequent sections, the general principles illustrated by these examples are discussed and applied to more complex scenarios. For more in-depth treatments, the reader is referred to Introduction to Risk Calculation in Genetic Counseling by Young2 and The Calculation of Genetic Risks by Bridge3 as well as several articles on genetic risk assessment that include advanced Bayesian analyses, particularly for spinal muscular atrophy (SMA)4,5 and cystic fibrosis (CF). 6–9

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References

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Author information

Authors and Affiliations

  1. Department of Pathology, Brigham and Women’s Hospital, Boston, MA

    Shuji Ogino (Assistant Professor)

  2. Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA

    Shuji Ogino (Assistant Professor)

  3. Harvard Medical School, Boston, MA, 02115, USA

    Shuji Ogino (Assistant Professor)

  4. Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Robert B. Wilson MD, PhD (Associate Professor)

Authors
  1. Shuji Ogino
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  2. Robert B. Wilson MD, PhD
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Editor information

Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University and New York Presbyterian Hospital, New York, NY, 10021, USA

    Debra G. B. Leonard MD, PhD (Professor and Vice Chair for Laboratory Medicine) (Professor and Vice Chair for Laboratory Medicine)

  2. Hematology, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Adam Bagg MD (Director) (Director)

  3. Department of Pathology and Laboratory Medicine, Emory University Hospital, Atlanta, GA, 30322, USA

    Angela M. Caliendo MD, PhD (Vice Chair and Associate Professor) (Vice Chair and Associate Professor)

  4. Northwestern University Feinberg School of Medicine, Evanston, IL, 60201

    Karen L. Kaul MD, PhD (Professor) (Professor)

  5. Department of Pathology and Laboratory Medicine, Evanston Northwestern Healthcare, Evanston, IL, 60201, USA

    Karen L. Kaul MD, PhD (Professor) (Professor)

  6. Molecular Pathology Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania Health System, Philadelphia, PA, 19104, USA

    Vivianna M. Van Deerlin MD, PhD (Director) (Director)

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© 2007 Springer Science+Business Media, LLC

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Ogino, S., Wilson, R.B. (2007). Bayesian Analysis. In: Leonard, D.G.B., Bagg, A., Caliendo, A.M., Kaul, K.L., Van Deerlin, V.M. (eds) Molecular Pathology in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-0-387-33227-7_5

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  • DOI: https://doi.org/10.1007/978-0-387-33227-7_5

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-33226-0

  • Online ISBN: 978-0-387-33227-7

  • eBook Packages: MedicineMedicine (R0)

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