Author

Gabriel Aldam

Genomics England

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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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 Andrew ParrishiD· 1 shared Arina PuzriakovaiD· 1 shared Dalia KasperavičiūtėiD· 1 shared Dasha Deen· 1 shared David P BickiD· 1 shared Ellen ThomasiD· 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

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

Joanna Kaplanis, Dasha Deen, Prasanth Sivakumar, Mafalda de Almeida Gomes, Arina Puzriakova, Ivone Un San Leong, K. Savage, Gabriel Aldam, James Skelton, Paul Quinn, Andrew Parrish, Emma L. Baple, Meekai To, Katrina Stone, David P Bick, , 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.

Genetics in Medicine · Jul 17, 2025Peer-reviewedGenetic & Genomic Medicine