Author

Tracy Ann Briggs

Manchester Academic Health Science CentreORCID 0000-0001-5208-2691Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adam P. VogeliD· 1 shared Alain FischeriD· 1 shared Alain Lefèvre‐UtileiD· 1 shared Alexander Antipenko· 1 shared Alexandre BolzeiD· 1 shared Algy Taylor· 1 shared Andrew G.L. Douglas· 1 shared Andrew John PollardiD· 1 shared

Activity by Year

2018-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam P. VogelORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 1, 2022

Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

Lottie D. Morison, Elisabeth Meffert, Miriam Stampfer…·Angela Tamsin Morgan

This study characterizes 29 individuals with FOXP2 variants, showing high prevalence of speech disorders and language impairments, with relatively specific phenotypes compared to other monogenic conditions.

DOI 10.1101/2022.06.01.22275851

humanstatistical model

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJan 21, 2022

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

Charlie F Rowlands, Algy Taylor, Gillian Rice…·Jamie M. Ellingford

The paper introduces MRSD, a metric to determine optimal RNA-seq depth and tissue for assessing splicing variants in Mendelian diseases, showing LCLs are best for most gene panels.

29 citations

humanbulk RNA-seq

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GeneticsProceedings of the National Academy of SciencesPeer-reviewedAug 2, 2018

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Alexandre Bolze, Bertrand Boisson, Barbara Bosch…·Jean‐Laurent Casanova

The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.

44 citations

human

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