Author

Jill de Rijke

Great Ormond Street HospitalORCID 0009-0009-4712-6034Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alex W.H. ChaniD· 1 shared Bhooma ThiruvahindrapuramiD· 1 shared Brett TrostiD· 1 shared David J. MageriD· 1 shared Elemi BreetveltiD· 1 shared Elizabeth Redman· 1 shared Faraz AliiD· 1 shared Giovanna PellecchiaiD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alex W.H. ChanORCID

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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

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BioinformaticsBMC GeneticsPeer-reviewedJul 10, 2020

A database for ITS2 sequences from nematodes

Matthew L. Workentine, Rebecca Chen, Shawna Zhu…·John S. Gilleard

The paper presents a database of ITS2 sequences from nematodes and the software used to build it, along with tools to create ITS2 databases for other taxonomies.

100 citationstop 2%

DNA methylationexperimental assay

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