Author

Eleanor Hay

Great Ormond Street HospitalORCID 0000-0001-8599-8890Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:database / resource· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Abhijit DixitiD· 1 shared Ada HamoshiD· 1 shared Ajith KumariD· 1 shared Alexander T. DengiD· 1 shared Alice GardhamiD· 1 shared Alison Stewart· 1 shared Ana RathiD· 1 shared Andrea Hilary NemethiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetics

Abhijit DixitORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedNov 17, 2023

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

Angharad M. Roberts, Marina T. DiStefano, Erin Rooney Riggs…·James S. Ware

This paper standardizes terminology for describing disease-gene relationships to improve variant classification and genetic test interpretation.

20 citations

statistical modeldatabase / resource

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GeneticsbioRxivPreprintJul 26, 2022

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush…·Anne Goriely

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

2 citations

humanwhole-exome sequencing

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