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Updated: Jul 11, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Assessment of cumulative evidence on genetic associations: interim guidelines
John P A Ioannidis1, Paolo Boffetta, Julian Little
1Clinical and Molecular Epidemiology Unit, University of Ioannina School of Medicine, Ioannina 45110, Greece. jioannid@cc.uoi.gr
Abstract:
Established guidelines for causal inference in epidemiological studies may be inappropriate for genetic associations. A consensus process was used to develop guidance criteria for assessing cumulative epidemiologic evidence in genetic associations. A proposed semi-quantitative index assigns three levels for the amount of evidence, extent of replication, and protection from bias, and also generates a composite assessment of 'strong', 'moderate' or 'weak' epidemiological credibility. In addition, we discuss how additional input and guidance can be derived from biological data. Future empirical research and consensus development are needed to develop an integrated model for combining epidemiological and biological evidence in the rapidly evolving field of investigation of genetic factors.
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