Author

Amanda Buchner

University of AlbertaORCID 0000-0001-9574-4763Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:long-read sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Annamaria CattaneoiD· 2 shared Beatriz Carvalho HenriquesiD· 2 shared Gerald PfefferiD· 2 shared Joanna HauseriD· 2 shared Katherine Jean AitchisoniD· 2 shared Keanna WallaceiD· 2 shared Kristina MartensiD· 2 shared Marcella RietscheliD· 2 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Annamaria CattaneoORCID

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2 papers

Recent·Most cited

Single molecule long-read real-time amplicon-based sequencing of CYP2D6: a proof-of-concept with hybrid haplotypes

Rachael Dong, Megana Thamilselvan, Jerome C. Foo, J. M. Dejarnette, Xiuying Hu, Beatriz Carvalho Henriques, Yabing Wang, Keanna Wallace, Sudhakar Sivapalan, Amanda Buchner, Vasyl Yavorskyy, Kristina Martens, Wolfgang Maier, Neven Henigsberg, Joanna Hauser, , Katherine Jean Aitchison

This paper develops a HiFi SMRT amplicon-based method to accurately detect CYP2D6 haplotypes, including fusion genes, with high alignment accuracy.

bioRxiv · Aug 17, 2022 · PreprintGenomics

Cross-validation of technologies for genotyping CYP2D6 and CYP2C19

Beatriz Carvalho Henriques, Amanda Buchner, Xiuying Hu, Yabing Wang, Vasyl Yavorskyy, Keanna Wallace, Rachael Dong, Kristina Martens, Michael S. Carr, Bahareh Behroozi Asl, Joshua Hague, Sudhakar Sivapalan, Wolfgang Maier, Mojca Zvezdana Dernovšek, Neven Henigsberg, , Katherine Jean Aitchison

The paper cross-validates genotyping methods for CYP2D6 and CYP2C19, finding high concordance for CYP2C19 and feasibility of NGS for CYP2D6 with automated interpretation.

Translational Psychiatry · Nov 22, 2021Peer-reviewedGenetics