Author

Vincent D. Ustach

ORCID 0000-0001-8299-3998Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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

Caroline Fiona WrightiD· 1 shared Daniel Shiloh MalawskyiD· 1 shared Eamonn G. SheridaniD· 1 shared Emilie M. WigdoriD· 1 shared Eugene J. GardneriD· 1 shared Helen V. FirthiD· 1 shared Hilary C. MartiniD· 1 shared Kaitlin E. SamochaiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Caroline Fiona WrightORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 24, 2023

Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations

V. Kartik Chundru, Zhancheng Zhang, Klaudia Walter…·Hilary C. Martin

The paper quantifies the contribution of recessive coding variants to developmental disorders in diverse populations, identifying novel genes and highlighting challenges in interpreting missense variants.

2 citations

humanwhole-exome sequencing

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