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Association claims in the sequencing era

  • S.L. Pulit
  • , M. Leusink
  • , A. Menelaou
  • , P.I.W. de Bakker
  • University Medical Center Utrecht

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Since the completion of the Human Genome Project, the field of human genetics has been in great flux, largely due to technological advances in studying DNA sequence variation. Although community-wide adoption of statistical standards was key to the success of genome-wide association studies, similar standards have not yet been globally applied to the processing and interpretation of sequencing data. It has proven particularly challenging to pinpoint unequivocally disease variants in sequencing studies of polygenic traits. Here, we comment on a number of factors that may contribute to irreproducible claims of association in scientific literature and discuss possible steps that we can take towards cultural change.
Original languageEnglish
Pages (from-to)196-213
Number of pages18
JournalGenes [E]
Volume5
Issue number1
DOIs
Publication statusPublished - 2014

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Keywords

  • conometric and Statistical Methods: General
  • GWAS
  • association
  • significance
  • bias
  • complex traits

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