Author

Kate Burley

University of BristolORCID 0000-0002-1569-5007Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrew David MumfordiD· 2 shared William G. NewmaniD· 2 shared Ahsan Ali KhaniD· 1 shared Albert C.M. OngiD· 1 shared Albertien M. van EerdeiD· 1 shared Alice E. DavidsoniD· 1 shared Alistair T. PagnamentaiD· 1 shared Amara Khan· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrew David MumfordORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 20, 2023

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Valentina Cipriani, Letizia Vestito, Emma Forton Magavern…·Damian P. Smedley

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

3 citations

humanwhole-genome sequencing

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GenomicsResearch and Practice in Thrombosis and HaemostasisPeer-reviewedMay 1, 2023

PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry

Kate Burley, Lucy Fitzgibbon, David A. van Heel…·Andrew David Mumford

The paper identifies PIK3R3 as a candidate regulator of platelet count in Bangladeshi ancestry individuals through GWAS and functional analysis.

3 citations

humanGWAS summary statistics

𝕏 PostBluesky