Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci

Our results highlight the potential of targeted nanopore sequencing for characterising poorly resolved or complex variation, which may be initially obscured in risk-associated regions detected by GWAS. Some of the variants identified in this way, such as the polymorphic SVA-D and poly-T STR, could contribute to mechanisms of phenotypic risk, through regulation of several neighbouring genes implicated in AN biology, and affect post-transcriptional processing of FOXP1, respectively. This exploratory investigation was not powered to detect functional effects, however, the variants we observed using this method are poorly represented in the current human reference genome and accompanying databases, and further examination of these may provide new opportunities for improved understanding of genetic risk mechanisms of AN.

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Publication Details

Journal
BMC Genomics
Published
2024-12-31
DOI
https://doi.org/10.1186/s12864-024-11172-7
Citations
1
Primary Topic
RNA modifications and cancer
Type
article
Field-Weighted Citation Impact
0.23

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article

Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci

Cynthia Marie Bulik, Jennifer Jordan, Allison L. Miller, M. Tschochner et al.
1 citations
BMC Genomics
RNA modifications and cancer
0.23
article

Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci

Cynthia Marie Bulik, Jennifer Jordan, Allison L. Miller, M. Tschochner, Sean Hood, Martin Alexander Kennedy, P. Anthony Akkari, Silvana Gaudieri, Natasha Berthold, Laura M. Thornton
article en
1 citations

Abstract

Our results highlight the potential of targeted nanopore sequencing for characterising poorly resolved or complex variation, which may be initially obscured in risk-associated regions detected by GWAS. Some of the variants identified in this way, such as the polymorphic SVA-D and poly-T STR, could contribute to mechanisms of phenotypic risk, through regulation of several neighbouring genes implicated in AN biology, and affect post-transcriptional processing of FOXP1, respectively. This exploratory investigation was not powered to detect functional effects, however, the variants we observed using this method are poorly represented in the current human reference genome and accompanying databases, and further examination of these may provide new opportunities for improved understanding of genetic risk mechanisms of AN.

BMC GenomicsVol. 25(1)
University of North Carolina at Chapel Hill (US), Duke University (US), Murdoch University (AU), The University of Western Australia (AU), Karolinska Institutet (SE), Perron Institute for Neurological and Translational Science (AU), University of Otago (NZ), Vanderbilt University Medical Center (US), The University of Notre Dame Australia (AU)
University of Otago
Openalex Percentile: Top 40%
RNA modifications and cancer
0.23
DOIOpen Access PDFOpenAlex
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Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci — Cynthia Marie Bulik, Jennifer Jordan, et al. · BMC Genomics (2024) | TGRS Research Map | TGRS