Author

Himanshu Joshi

Children's Hospital at WestmeadORCID 0000-0003-1510-8826Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Himanshu Joshi1 paper · Post Graduate Institute of Medical Education and Research

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Sandra T. CooperiD· 2 shared Adam BournazosiD· 1 shared Aileen Reghan FoleyiD· 1 shared Alan H. BeggsiD· 1 shared Ana TöpfiD· 1 shared Anna SárközyiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Ben WeisburdiD· 1 shared

Activity by Year

2017-2022 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Sandra T. CooperORCID

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2 papers

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedMar 29, 2022

Empirical prediction of variant-associated cryptic-donors with 87% sensitivity and 95% specificity

Ruebena Dawes, Himanshu Joshi, Sandra T. Cooper

The paper develops an empirical method to predict cryptic-donor activation by genetic variants with 87% sensitivity and 95% specificity using RNA-sequencing data.

30 citations

humanbulk RNA-seq

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GenomicsScience Translational MedicinePeer-reviewedApr 19, 2017

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen…·Daniel G. MacArthur

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.

831 citationstop 1%

humanbulk RNA-seq

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