Author

Frances Smith

King's College HospitalORCID 0000-0001-6069-1390Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Anna SchuhiD· 1 shared Anthony Cutts· 1 shared Barnaby E. ClarkiD· 1 shared Dimitris V. VavoulisiD· 1 shared Mary PetrouiD· 1 shared Shirley J. Henderson· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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6 top collaborators · 15 mutual co-author links

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1 shared paperGenomics

Anna SchuhORCID

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1 paper

Recent·Most cited

GenomicsBloodPeer-reviewedAug 23, 2019

A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders

Anthony Cutts, Dimitris V. Vavoulis, Mary Petrou…·Anna Schuh

This paper validates a non-invasive prenatal test for detecting monogenic autosomal recessive disorders using cfDNA sequencing and probabilistic modeling, achieving high sensitivity and specificity in clinical samples.

23 citations

humanDNA methylation

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