Author

Rulan Shaath

Hospital for Sick ChildrenORCID 0000-0003-2701-3912Unclaimed 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 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Bhooma ThiruvahindrapuramiD· 2 shared Brett TrostiD· 2 shared Giovanna PellecchiaiD· 2 shared Jacob A. S. VorstmaniD· 2 shared Mehdi Zarrei· 2 shared Thomas NalpathamkalamiD· 2 shared Worrawat EngchuaniD· 2 shared Ada J. S. Chan· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bhooma ThiruvahindrapuramORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 17, 2025

Evaluating the impact of compound heterozygosity involving microdeletions and sequence-level variants: findings in autism

Worrawat Engchuan, Kara Han, Rayssa M.M.W. Feitosa…·Jacob A. S. Vorstman

The paper evaluates the role of compound heterozygous deletion events in autism by analyzing 9,766 families and finds modest enrichment of rare DelCH events in autistic individuals.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMay 5, 2022

Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation

Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan…·Evdokia A. Anagnostou

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

3 citations

humanwhole-genome sequencing

𝕏 PostBluesky