Author

Nicole C. Gossan

St Mary's Hospital

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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Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Andrew R. WebsteriD· 1 shared Anthony Kevin Webb· 1 shared Beatriz Gomes-SilvaiD· 1 shared Charlie F RowlandsiD· 1 shared Christopher Campbell· 1 shared Christopher O’CallaghaniD· 1 shared Claire L. Hardcastle· 1 shared Elizabeth A. JonesiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Andrew R. WebsterORCID

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintSep 26, 2019

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Jamie M. Ellingford, Huw B. Thomas, Charlie F Rowlands…·Graeme Charles M. Black

This paper develops an in-silico and functional analysis framework to identify splicing mutations in rare genomic disorders, finding that SpliceAI prioritization improves diagnostic clarity and yield.

18 citations

humanwhole-exome sequencing

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