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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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Pages 191-200

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From page 191...
... :491-493. HAALSI (Health and Aging in Africa: A Longitudinal Study of an INDEPTH Community in South Africa)
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From page 192...
... 192 POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH UT (University of Tartu)
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From page 193...
... D Decision Tree for the Use of Population Descriptors in Genomics Research 193
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From page 194...
... If modifications to the group-level data were made, share and describe the formation of the new labels when publishing. FIGURE D-1  Decision tree for the use of population descriptors in genomics research.
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From page 195...
... APPENDIX D 195 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
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From page 196...
... populations… and describe study population as well as control for genetic background Then Then  Genetic similarity � Genetic ancestry Population descriptors not Possibly no population needed. Type the variants YES NO descriptor needed themselves.
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From page 197...
... identified and validated? YES NO Then Then Population descriptors no longer Genetic similarity could be useful needed.
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From page 198...
... 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
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From page 199...
... 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 200...
... 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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Key Terms

  • population descriptors
  • genomics research
  • genetic ancestry
  • genetic similarity
  • underlying mechanisms

  • american journal
  • south africa
  • population descriptor
  • ethnicity data
  • longitudinal study

  • study participants
  • health disparities
  • study type
  • ancestral recombination
  • genetic basis

  • environmental exposures
  • recombination graph
  • decision tree
  • gene discovery
  • indepth community

  • allele frequencies
  • research studies
  • brazilian initiative
  • study types
  • precision medicine

  • evolutionary history
  • similar allele
  • novo mutation
  • trait prediction
  • study design


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