Author

Eleanor F. Dewhurst

John Radcliffe Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Organism:human· 2 Approach:statistical model· 2 Approach:experimental assay· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 3 shared Christopher J. PenkettiD· 3 shared Courtney E. FrenchiD· 3 shared Detelina GrozevaiD· 3 shared Alasdair P. J. ParkeriD· 2 shared Andrew R. WebsteriD· 2 shared Dragana J. JosifovaiD· 2 shared Emma L. WakelingiD· 2 shared

Activity by Year

2018-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Alba Sanchis‐JuanORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

Alba Sanchis‐Juan, Karyn Mégy, Jonathan C. Stephens, Camila Armirola-Ricaurte, Eleanor F. Dewhurst, Kay Yi Low, Courtney E. French, Detelina Grozeva, Kathleen E. Stirrups, Marie Erwood, Amy McTague, Christopher J. Penkett, Olga Shamardina, Salih Tuna, Louise C. Daugherty, , Keren Carss

This study uses genome sequencing to identify causal variants in families with neurodevelopmental disorders, finding 36% of affected individuals have causal variants and 26% have variants of uncertain significance.

The American Journal of Human Genetics · Aug 1, 2023Peer-reviewedGenetic & Genomic Medicine

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders

Alba Sanchis‐Juan, Jonathan C. Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher J. Penkett, Olga Shamardina, Kathleen E. Stirrups, Isabelle Delon, Eleanor F. Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, , Keren Carss

The paper identifies complex structural variants in Mendelian disorders using short-read and long-read sequencing, showing their clinical significance and the utility of long-read technology for resolution.

Genome Medicine · Dec 1, 2018Peer-reviewedGenomics

Telomerecat: A Ploidy-Agnostic Method For Estimating Telomere Length From Whole Genome Sequencing Data

James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases, Aarnoud P. Huissoon, Abigail Furnell, Adam J. Mead, Adam P. Levine, Adnan Yousaf Manzur, Adrian James Thrasher, Alan J. Greenhalgh, Alasdair P. J. Parker, Alba Sanchis‐Juan, Alex Richter, Alice Gardham, Allan Lawrie, , Emma L. Wakeling

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.

Scientific Reports · Jan 16, 2018Peer-reviewedBioinformatics