Author

John B. A. Okello

Hospital for Sick ChildrenORCID 0000-0002-5889-1905Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Organism:human· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Raymond H. KimiD· 2 shared Rebekah JoblingiD· 2 shared Roozbeh ManshaeiiD· 2 shared Stephen W. SchereriD· 2 shared Anne S. BassettiD· 1 shared Bahareh A. MojaradiD· 1 shared Candice K. Silversides· 1 shared Cherith Somerville· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersBioinformatics

Raymond H. KimORCID

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2 papers

Recent·Most cited

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation

Roozbeh Manshaei, Sean DeLong, Veronica Andric, Esha Joshi, John B. A. Okello, Priya Dhir, Cherith Somerville, Kirsten M. Farncombe, Kelsey J. Kalbfleisch, Rebekah Jobling, Stephen W. Scherer, Raymond H. Kim, S. Mohsen Hosseini

GeneTerpret streamlines genomic variant interpretation by integrating multiple data sources and ACMG criteria to prioritize potentially causal variants for a given genome and phenotype.

BMC Medical Genomics · Feb 18, 2022Peer-reviewedBioinformatics

Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences

Roozbeh Manshaei, Daniele Merico, Miriam S. Reuter, Worrawat Engchuan, Bahareh A. Mojarad, Rajiv R Chaturvedi, Tracy Heung, Giovanna Pellecchia, Mehdi Zarrei, Thomas Nalpathamkalam, Reem Khan, John B. A. Okello, Eriskay Liston, Meredith Curtis, Ryan K. C. Yuen, , Anne S. Bassett

This paper identifies ultra-rare variants in NOTCH1 and FLT4 associated with tetralogy of Fallot using burden analysis of genome sequences from 231 individuals.

Frontiers in Genetics · Sep 15, 2020Peer-reviewedGenomics