Author

Alice Tuff-Lacey

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:benchmarking· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amanda PichiniiD· 2 shared Dalia KasperavičiūtėiD· 2 shared David P BickiD· 2 shared Aaron J. GoldenbergiD· 1 shared Aditi SatijaiD· 1 shared Alberte Lundquist· 1 shared Aldona Zygmunt· 1 shared Alessandra FerliniiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amanda PichiniORCID

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2 papers

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

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten, Sarah Bick, Sophia M. Adelson, Nils Gehlenborg, Laura M. Amendola, François Boemer, Alison J. Coffey, Nicolas Encina, Alessandra Ferlini, Janbernd Kirschner, Bianca E. Russell, Laurent Servais, Kristen Lipscomb Sund, Ryan J. Taft, Petros Tsipouras, , Dominique C. Pichard

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

Genetics in Medicine · May 9, 2025Peer-reviewedGenetic & Genomic Medicine