Author

Alice Hulbert

Liverpool Women's Hospital

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Genetics· 1

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

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Andrew Roger BassettiD· 1 shared Carla P. JonesiD· 1 shared Caroline Fiona WrightiD· 1 shared David R FitzPatrickiD· 1 shared Dhavendra Kumar· 1 shared Diana S. JohnsoniD· 1 shared Elena PrigmoreiD· 1 shared Elizabeth J. RadfordiD· 1 shared

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Andrew Roger BassettORCID

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1 paper

Recent·Most cited

GeneticsSciencePeer-reviewedNov 8, 2018

Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre…·on behalf of the Deciphering Developmental Disorders Study

The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.

200 citationstop 1%

humanwhole-exome sequencing

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