Introduction to human genetics

Jennifer E. Posey, Katherina Walz

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


The last three decades have seen tremendous growth in the ability to link genes, and individual variants, to human disease traits. Genome-wide assays such as chromosomal microarray and exome and genome sequencing have stimulated this growth. Model organism studies are instrumental for understanding the molecular mechanisms underlying phenotypic expression associated with a particular locus, and enable a true dissection of both functional variant types and combinations of variants (biallelic or multilocus) on human disease traits. Below we review the current status of discovery in human genetics and genomics, and describe several examples of discoveries for which model organism study will provide a cornerstone for elucidating relationships between genomic variation, molecular pathogenesis of disease, and disease biology, with the potential to identify targets for therapeutic development and enable precision medicine.

Original languageEnglish (US)
Title of host publicationCellular and Animal Models in Human Genomics Research
Number of pages17
ISBN (Electronic)9780128165737
StatePublished - Jan 1 2019


  • Chromosomal microarray
  • Disease traits
  • Exome sequencing
  • Gene discovery
  • Genome sequencing
  • Model organisms
  • Precision medicine

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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