Author

Huda B. Al‐Kouatly

Thomas Jefferson UniversityORCID 0000-0003-2922-0333Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Bojan LosiciD· 1 shared Cairbre Fanslow· 1 shared Changrui XiaoiD· 1 shared Christine C. Lambert· 1 shared Emmanuèle C. DélotiD· 1 shared Eric J. N. VilainiD· 1 shared Georgia PitsavaiD· 1 shared John HartingiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Bojan LosicORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 1, 2026

Identification of de novo variants from parent-proband duos via long-read sequencing

Leandros Boukas, Emmanuèle C. Délot, Georgia Pitsava…·Seth I. Berger

duoNovo identifies de novo variants from parent-proband duos using long-read sequencing, achieving high precision and low error rates in diagnostic evaluations.

1 citation

humanlong-read sequencing

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