Author

David Hunt

University Hospital Southampton NHS Foundation TrustPrimary ORCID profile (0000-0003-0590-874X · 2 papers)Unclaimed ORCID profile · follow to get notified of new preprints

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Same name, identified by ORCID

David HuntiD2 papers · University of Washington

Biology Disciplines

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Genetic & Genomic Medicine· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Diana BaralleiD· 2 shared Nicholas Simon ThomasiD· 2 shared Andrew G. L. DouglasiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Anneleen Timmer· 1 shared Bradley A. CaroniD· 1 shared Branislava Ćurĉić‐BlakeiD· 1 shared Brent Caleb McPhersoniD· 1 shared

Activity by Year

2021-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Diana BaralleORCID

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3 papers

Recent·Most cited

RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders

Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I Rich, David J. Bunyan, Nicholas Simon Thomas, David Hunt, Jenny Lord, Andrew G. L. Douglas, Diana Baralle

This study uses RNA-sequencing to identify novel diagnoses in Mendelian disorders by detecting aberrant splicing and expression abnormalities, particularly in patients without candidate sequence variants.

medRxiv · Jul 5, 2023 · PreprintGenetic & Genomic Medicine

A panel-agnostic strategy "HiPPo" improves diagnostic efficiency in the UK Genome Medicine Service

Eleanor G. Seaby, Nicholas Simon Thomas, David Hunt, Diana Baralle, Heidi L. Rehm, Anne O’Donnell‐Luria, Sarah Ennis

The paper compares a panel-agnostic variant filtering approach (HiPPo) with a gene panel-based strategy in exome and genome data from NHS patients, finding HiPPo identifies more diagnostic variants with fewer assessments.

medRxiv · Jan 31, 2023 · PreprintGenetic & Genomic Medicine

White matter alterations in glaucoma and vision-deprived brains differ outside the visual system

Sandra Hanekamp, Branislava Ćurĉić‐Blake, Bradley A. Caron, Brent Caleb McPherson, Anneleen Timmer, Doety Prins, Christine C. Boucard, Masaki Yoshida, Masahiro Ida, David Hunt, Nomdo M. Jansonius, Franco Pestilli, Frans W. Cornelissen

The paper compares white matter microstructure changes in glaucoma and monocular blindness, finding distinct patterns outside the visual system.

Scientific Reports · Mar 25, 2021Peer-reviewedNeuroscience