Author

Moira Blyth

Chapel Allerton HospitalORCID 0000-0002-4312-413XUnclaimed 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· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Tarjinder SinghiD· 2 shared A. Paul BevaniD· 1 shared Abhijit DixitiD· 1 shared Adrian R. TiveyiD· 1 shared Alan DonaldsoniD· 1 shared Alan E Fryer· 1 shared Alejandro SifrimiD· 1 shared Alexis Duncan· 1 shared

Activity by Year

2016-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Tarjinder SinghORCID

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2 papers

Recent·Most cited

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

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

Tarjinder Singh, Mitja I. Kurki, David Curtis, Shaun M. Purcell, Lucy Crooks, Jeremy McRae, Jaana Suvisaari, Himanshu Chheda, Douglas Blackwood, Gerome Breen, Olli Pietilainen, Sebastian S. Gerety, Muhammad Ayub, Moira Blyth, Trevor Cole, , Carmel Moo

The paper identifies rare loss-of-function variants in KMT2F associated with schizophrenia and developmental disorders, showing their role in neurodevelopmental conditions.

bioRxiv · Jan 12, 2016Genomics