Author

Helen Suzanne Cox

Birmingham Women's HospitalORCID 0000-0002-6538-7192Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:variant calling· 2 Organism:bacteria (other)· 1 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

A. Paul BevaniD· 1 shared Abhijit DixitiD· 1 shared Adrian R. TiveyiD· 1 shared Alan DonaldsoniD· 1 shared Alan E Fryer· 1 shared Alberto L. García‐BasteiroiD· 1 shared Alejandro SifrimiD· 1 shared Alexis Duncan· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

A. Paul BevanORCID

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2 papers

Recent·Most cited

Local adaptation in populations of Mycobacterium tuberculosis endemic to the Indian Ocean Rim

Fabrizio Menardo, Liliana K. Rutaihwa, Michaela Zwyer, Sònia Borrell, Iñaki Comas, Emilyn Costa Conceição, Mireia Coscollá, Helen Suzanne Cox, Moses Lutaakome Joloba, Horng-Yunn Dou, Julia Feldmann, Lukas Fenner, Janet Fyfe, Qian Gao, Darı́o Garcı́a de Viedma, , Sébastien Gagneux

The paper analyzes whole genome sequences of Mycobacterium tuberculosis lineages L1 and L3 to show South Asia's role in their dispersion and identify local adaptation at the esxH locus.

F1000Research · Feb 1, 2021Peer-reviewedGenomics

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia A. Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, , Neeti Ghali

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.

bioRxiv · Mar 7, 2019 · PreprintGenetics