Author

Andrew Parrish

Royal Devon & Exeter NHS Foundation TrustORCID 0009-0007-4527-2834Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alice Tuff-Lacey· 1 shared Amanda PichiniiD· 1 shared Arina PuzriakovaiD· 1 shared Dalia KasperavičiūtėiD· 1 shared Dasha Deen· 1 shared David P BickiD· 1 shared Ellen ThomasiD· 1 shared Emma L. BapleiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alice Tuff-Lacey

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 17, 2025

Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study

Joanna Kaplanis, Dasha Deen, Prasanth Sivakumar…·Dalia Kasperavičiūtė

The paper assesses an automated variant prioritisation strategy for genomic newborn screening in the Generation Study, finding that 3-5% of samples require manual review and <1% need confirmatory testing.

13 citationstop 2%

humanwhole-exome sequencing

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