Author

Harindra Jayasekara

The University of MelbourneORCID 0000-0002-2453-0183Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amanda B. SpurdleiD· 1 shared Aung Ko WiniD· 1 shared Bernard J. PopeiD· 1 shared Christophe RostyiD· 1 shared Daniel D. BuchananiD· 1 shared Finlay MacraeiD· 1 shared Ingrid WinshipiD· 1 shared Jihoon Eric JooiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amanda B. SpurdleORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineJournal of Molecular DiagnosticsPeer-reviewedDec 28, 2020

Germline and Tumor Whole Genome Sequencing as a Diagnostic Tool to Resolve Suspected Lynch Syndrome

Bernard J. Pope, Mark Clendenning, Christophe Rosty…·Daniel D. Buchanan

This study uses germline and tumor whole genome sequencing to identify the cause of mismatch repair deficiency in suspected Lynch syndrome cases, finding that most cases are due to somatic mutations rather than inherited variants.

23 citations

humanwhole-genome sequencing

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