Author

Sandy S. Pineda

The University of SydneyORCID 0000-0002-9003-0101Unclaimed ORCID profile · follow to get notified of new preprints

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Sandy S. Pineda1 paper

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Andrea CorteseiD· 1 shared Avi FellneriD· 1 shared Carol Dobson‐StoneiD· 1 shared Carolin K. ScribaiD· 1 shared Gianina RavenscroftiD· 1 shared Glenda Margaret HallidayiD· 1 shared Hasindu GamaarachchiiD· 1 shared Henry HouldeniD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrea CorteseORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineScience AdvancesPeer-reviewedMar 4, 2022

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi…·Ira W. Deveson

This study develops a programmable nanopore sequencing assay for diagnosing all known pathogenic STRs in a single test, accurately diagnosing 27 patients with neurogenetic disorders.

190 citationstop 1%

humanlong-read sequencing

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