Association claims in the sequencing era

S.L. Pulit, M. Leusink, A. Menelaou, P.I.W. de Bakker

Research output: Contribution to journalArticleAcademicpeer-review


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]
Issue number1
Publication statusPublished - 2014


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


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