Author

Genomics England

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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 effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Chris A. Odhams· 1 shared Hywel J. WilliamsiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Chris A. Odhams

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1 paper

Recent·Most cited

Improved diagnosis of rare disease patients through application of constrained coding region annotation and de novo status.

Hywel J. Williams, Chris A. Odhams, Genomics England

This paper evaluates the diagnostic utility of incorporating de novo variants and constrained coding regions in rare disease patients, showing improved diagnostic rates.

medRxiv · Aug 19, 2022 · PreprintGenetic & Genomic Medicine