Author

Kristina Martens

University of CalgaryORCID 0000-0002-3957-0647Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1 Assay:long-read sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Gerald PfefferiD· 3 shared Amanda BuchneriD· 2 shared Annamaria CattaneoiD· 2 shared Beatriz Carvalho HenriquesiD· 2 shared Joanna HauseriD· 2 shared Katherine Jean AitchisoniD· 2 shared Keanna WallaceiD· 2 shared Marcella RietscheliD· 2 shared

Activity by Year

2021-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Gerald PfefferORCID

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3 papers

Recent·Most cited

GeneticsF1000ResearchPeer-reviewedSep 2, 2022

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

Govinda Sharma, Mashiat Zaman, Rasha Sabouny…·Timothy E. Shutt

The paper reports a novel MFN2 variant associated with ataxia, optic atrophy, and sensorineural hearing loss, and shows its functional impact in patient fibroblasts.

21 citations

humanexperimental assay

𝕏 PostBluesky

GenomicsbioRxivPreprintAug 17, 2022

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…·Katherine Jean Aitchison

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

1 citation

humanlong-read sequencing

𝕏 PostBluesky

GeneticsTranslational PsychiatryPeer-reviewedNov 22, 2021

Cross-validation of technologies for genotyping CYP2D6 and CYP2C19

Beatriz Carvalho Henriques, Amanda Buchner, Xiuying Hu…·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.

28 citationstop 4%

humanwhole-genome sequencing

𝕏 PostBluesky