Differential allelic representation (DAR) identifies candidate eQTLs and improves transcriptome analysis.


Journal

bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187

Informations de publication

Date de publication:
21 Mar 2023
Historique:
pubmed: 23 3 2023
medline: 23 3 2023
entrez: 22 3 2023
Statut: epublish

Résumé

In comparisons between mutant and wild-type genotypes, transcriptome analysis can reveal the direct impacts of a mutation, together with the homeostatic responses of the biological system. Recent studies have highlighted that, when homozygous mutations are studied in non-isogenic backgrounds, genes from the same chromosome as a mutation often appear over-represented among differentially expressed (DE) genes. One hypothesis suggests that DE genes chromosomally linked to a mutation may not reflect true biological responses to the mutation but, instead, result from differences in representation of expression quantitative trait loci (eQTLs) between sample groups selected on the basis of mutant or wild-type genotype. This is problematic when inclusion of spurious DE genes in a functional enrichment study results in incorrect inferences of mutation effect. Here we show that

Identifiants

pubmed: 36945478
doi: 10.1101/2023.03.02.530865
pmc: PMC10028786
pii:
doi:

Types de publication

Preprint

Langues

eng

Auteurs

Lachlan Baer (L)

School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

Karissa Barthelson (K)

School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.
Childhood Dementia Research Group, College of Medicine and Public Health, Flinders Health and Medical Research Institute, Flinders University, Bedford Park, SA, Australia.

John Postlethwait (J)

Institute of Neuroscience, University of Oregon, Eugene, OR, USA.

David Adelson (D)

School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

Stephen Pederson (S)

Black Ochre Data Labs, Indigenous Genomics, Telethon Kids Institute, Adelaide, SA, Australia.
Dame Roma Mitchell Cancer Research Laboratories, Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.
John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.

Michael Lardelli (M)

School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

Classifications MeSH