How secondary findings are made

Kevin M. Bowling, Michelle L. Thompson, Gregory M. Cooper

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


In this chapter, secondary findings are discussed in the context of exome and genome sequencing that is being conducted to identify genetic variation in individuals suspected to have genetic disease. We summarize how secondary findings are discovered in clinical large-scale DNA sequencing and the sequencing technologies that are currently being employed by clinical and research laboratories. Moreover, we detail the downstream analytical pipelines that are utilized to detect potentially medically relevant genetic variation and discuss places within this pipeline where secondary genetic findings can be proactively sought out or even avoided.

Original languageEnglish
Title of host publicationSecondary Findings in Genomic Research
Number of pages17
ISBN (Electronic)9780128165492
StatePublished - Jan 1 2020


  • Analysis
  • Clinical sequencing
  • Exome sequencing
  • Genome sequencing
  • Secondary findings


Dive into the research topics of 'How secondary findings are made'. Together they form a unique fingerprint.

Cite this