Author

Tricia N. Zion

Children's Mercy HospitalORCID 0000-0001-7053-1569Unclaimed 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· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:machine learning (classical)· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aaron M. WengeriD· 2 shared Ana S.A. CoheniD· 2 shared Elin GrundbergiD· 2 shared Emily FarrowiD· 2 shared Isabelle ThiffaultiD· 2 shared Jeffrey J. JohnstoniD· 2 shared Margaret Gibson· 2 shared Scott T. YoungeriD· 2 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Aaron M. WengerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMay 29, 2023

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Warren Cheung, Adam F. Johnson, William J. Rowell…·Tomi Pastinen

The paper uses HiFi sequencing to identify hypermethylation outliers in a rare disease cohort, finding allele-specific loss of regulatory elements linked to disease.

49 citationstop 3%

humanwhole-genome sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 16, 2022

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Ana S.A. Cohen, Emily Farrow, Ahmed T. Abdelmoity…·Tomi Pastinen

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.

96 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky