Author

Leigh B. Waddell

The University of SydneyORCID 0000-0003-2970-6624Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alan H. BeggsiD· 2 shared Ana TöpfiD· 2 shared Anne O’Donnell‐LuriaiD· 2 shared Ben WeisburdiD· 2 shared Carsten G. BönnemanniD· 2 shared Daniel G. MacArthuriD· 2 shared Nigel G. LaingiD· 2 shared Roula GhaouiiD· 2 shared

Activity by Year

2017-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alan H. BeggsORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 8, 2023

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Monica Hsiung Wojcik, Gabrielle Lemire, Maha Saad Zaki…·Anne O’Donnell‐Luria

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

7 citations

humanwhole-exome sequencing

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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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