Author

Stephanie Halford

John Radcliffe HospitalORCID 0000-0003-2179-907XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:gene regulatory network inference· 1 Approach:graph neural network· 1 Research Focus:GWAS / association mapping· 1 Organism:human· 1

Frequent Co-Authors

Jing YuiD· 3 shared Nikolas PontikosiD· 3 shared Susan M. DownesiD· 3 shared Alessia FiorentinoiD· 2 shared Alison J. HardcastleiD· 2 shared Andrea Hilary NemethiD· 2 shared Andrew R. WebsteriD· 2 shared Chris F. InglehearniD· 2 shared

Activity by Year

2017-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersBioinformatics

Jing YuORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 15, 2021

SVRare: discovering disease-causing structural variants in the 100K Genomes Project

Jing Yu, Anita Szabó, Alistair T. Pagnamenta…·Susan M. Downes

SVRare improves the discovery of disease-causing structural variants by aggregating and annotating rare variants from whole genome sequencing data in the 100K Genomes Project.

23 citations

humanwhole-genome sequencing

𝕏 PostBluesky

BioinformaticsBioinformaticsPeer-reviewedJun 13, 2017

Pheno4J: A Gene To Phenotype Graph Database

Sajid Mughal, Ismail Moghul, Jing Yu…·David S Gregory

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.

13 citations

graph neural networkdatabase / resource

𝕏 PostBluesky

BioinformaticsBioinformaticsPeer-reviewedMar 14, 2017

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Nikolas Pontikos, Jing Yu, Ismail Moghul…·Vincent Plagnol

Phenopolis provides an open platform for integrating and analyzing sequencing and phenotype data to aid in clinical diagnosis and gene discovery.

52 citationstop 4%

whole-genome sequencingstatistical model

𝕏 PostBluesky