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Using Population Descriptors in Genetics and Genomics Research A New Framework for an Evolving Field (2023) / Chapter Skim
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Appendix D: Decision Tree for the Use of Population Descriptors in Genomics Research
Pages 191-200

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From page 191...
... D Decision Tree for the Use of Population Descriptors in Genomics Research 191 PREPUBLICATION COPY -- Uncorrected Proofs
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From page 192...
... Provide clear instructions on how downstream users can respect consent and Is the data individual- or group-level? any collaborative agreements with study participants regarding population descriptors.
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From page 193...
... APPENDIX D 193 PART B B: WHAT IS THE PURPOSE OF YOUR STUDY? Elucidating Cellular and Understanding Studying Human Gene Discovery Trait Prediction Biological Health Disparities Evolutionary History Mechanisms Go to B1 Go to B2 Go to B3 Go to B4 Go to B5 FIGURE D-1 Continued PREPUBLICATION COPY -- Uncorrected Proofs
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From page 194...
... May be used in some cases Elucidating Cellular Trait Prediction and Biological Understanding Health Studying Human Gene Discovery Mechanisms Disparities Evolutionary History Go to B2 Go to B3 Go to B4 Go to B5 Is the inheritance of the trait complex or Mendelian? Complex Mendelian Use a genetic relatedness matrix (i.e.
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From page 195...
... ? May be used in some cases Elucidating Cellular Understanding Health Studying Human Gene Discovery and Biological Disparities Evolutionary History Trait Prediction Mechanisms Go to B1 Go to B3 Go to B4 Go to B5 Is the inheritance of the trait complex or Mendelian?
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From page 196...
... May be used in some cases Elucidating Understanding Health Studying Human Gene Discovery Trait Prediction Cellular and Disparities Evolutionary History Biological Mechanisms Go to B1 Go to B2 Go to B4 Go to B5 Are you interested in genetic or environmental perturbations to underlying mechanisms? Genetic Perturbations to Environmental Neither Pathway Perturbations No population descriptors  Genetic similarity necessary given mechanisms You might consider are expected to be universal measures of genetic Go to C ENVIRONMENT similarity to identify individuals with similar allele frequencies and evolutionary histories FIGURE D-1 Continued PREPUBLICATION COPY -- Uncorrected Proofs
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From page 197...
... May be used in some cases Elucidating Cellular Studying Human Gene Discovery Trait Prediction and Biological Understanding Evolutionary History Mechanisms Health Disparities Go to B1 Go to B2 Go to B3 Go to B5 Are the genetic data being used to… Control for genetics Study impact of Understand health disparities (although not the primary environmental exposures mediated by social focus of the research processes of racism question)  Genetic similarity � Genetic ancestry Go to C ENVIRONMENT YES NO Then Then  Genetic similarity  Genetic similarity ?
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From page 198...
... May be used in some cases Elucidating Cellular Understanding Health Gene Discovery Trait Prediction and Biological Disparities Studying Human Mechanisms Evolutionary History Go to B1 Go to B2 Go to B3 Go to B4 In general  Genetic ancestry  Genetic similarity  Geography ? Ethnicity/Indigeneity � Race No population descriptor may be needed (e.g.
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From page 199...
... YES NO Then Then Carefully consider use of Collect information for as proxy variables if needed. many potential environmental Possible proxies: factors as possible and describe their source.
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From page 200...
... PREPUBLICATION COPY -- Uncorrected Proofs
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Key Terms

  • population descriptors
  • genetic similarity
  • evolutionary history
  • trait prediction
  • gene discovery

  • genomics research
  • studying human
  • health disparities
  • relatedness matrix
  • decision tree

  • understanding health
  • genetic relatedness
  • factor loadings
  • novo mutations
  • describe study

  • tree follows
  • study population
  • history trait
  • human gene
  • modifier loci

  • regarding population
  • variant frequency
  • collect additional
  • environment yes
  • understand health

  • similar modifier
  • geographic origins
  • genetic background
  • disparities studies
  • reference components


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