Nanopore Sequencing and Anorexia Nervosa Risk
Author Information
Author(s): Natasha Berthold, Silvana Gaudieri, Sean Hood, Monika Tschochner, Allison L. Miller, Jennifer Jordan, Laura M. Thornton, Cynthia M. Bulik, Patrick Anthony Akkari, Martin A. Kennedy
Primary Institution: University of Western Australia
Hypothesis
Unrecognised or relatively unexplored variants in the regions surrounding significant loci for anorexia nervosa exist and are promising targets for future functional analyses.
Conclusion
Targeted nanopore sequencing can effectively identify poorly resolved genetic variants that may contribute to anorexia nervosa risk.
Supporting Evidence
- Eight significant loci for anorexia nervosa have been identified by genome-wide association studies.
- Structural variants are important contributors to polygenic risk but are often poorly characterized.
- Targeted nanopore sequencing enriched the target regions with an average coverage of 14.64x.
- Twenty prioritised variants were curated from the sequencing data, many of which are poorly represented in the current human reference genome.
Takeaway
Researchers used a special sequencing method to find hidden genetic changes that might affect the risk of anorexia nervosa in some people.
Methodology
Targeted nanopore sequencing was applied to 200 kb regions around eight anorexia nervosa-associated loci in 10 case samples, followed by bioinformatics analysis to identify and prioritize variants.
Potential Biases
Potential biases in the bioinformatics tools and databases used for variant calling and annotation.
Limitations
The study had a small sample size and was not powered to detect functional effects, and the bioinformatics tools used may have biases.
Participant Demographics
All participants were female with European ancestry.
Digital Object Identifier (DOI)
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