Author

Dorota Pasko

Queen Mary University of London

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genomics· 1

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

Frequent Co-Authors

Aditi Chawla· 1 shared Ana Lisa Taylor TavaresiD· 1 shared Andrew David MumfordiD· 1 shared Anette E. SchragiD· 1 shared Angela Douglas· 1 shared Anna C. NeediD· 1 shared Antonio Rueda Martin· 1 shared Arianna TucciiD· 1 shared

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2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Aditi Chawla

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1 paper

Recent·Most cited

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Kristina Ibáñez, James M. Polke, Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Thomas, Louise C. Daugherty, Dalia Kasperavičiūtė, Ellen M. McDonagh, Katherine R. Smith, Antonio Rueda Martin, Dimitris Polychronopoulos, Heather Angus‐Leppan, Kailash P. Bhatia, James E. Davison, , Arianna Tucci

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

bioRxiv · Nov 6, 2020 · PreprintGenomics