Author

Elemi Breetvelt

Great Ormond Street HospitalORCID 0000-0002-1251-0089Unclaimed 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:GWAS / association mapping· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Bhooma ThiruvahindrapuramiD· 2 shared Brett TrostiD· 2 shared Jacob A. S. VorstmaniD· 2 shared Marla Mendes de AquinoiD· 2 shared Nelson Bautista SalazariD· 2 shared Nickie SafarianiD· 2 shared Stephen W. SchereriD· 2 shared Worrawat EngchuaniD· 2 shared

Activity by Year

2025-2026 · 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 MedicinemedRxivPreprintFeb 12, 2026

Genome-Wide Significance Reconsidered: Low-Frequency Variants and Regulatory Networks in Autism

Marla Mendes de Aquino, Worrawat Engchuan, Sydney Thompson…·Elemi Breetvelt

The paper re-evaluates genome-wide significance thresholds for low-frequency variants in autism, identifying novel variants and their functional roles.

2 citations

humanwhole-genome sequencing

𝕏 PostBluesky

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