Author

Audrey E. Squire

Seattle Children's Hospital

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

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Research Focus:dimensionality reduction· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexandra P. LewisiD· 1 shared Angela SuniD· 1 shared Anne V HingiD· 1 shared Arvis SulovariiD· 1 shared Catherine Randall PaschaliD· 1 shared Christina T. LamiD· 1 shared Dan DohertyiD· 1 shared Danny E. MilleriD· 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 paperGenomics

Alexandra P. LewisORCID

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1 paper

Recent·Most cited

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P. Almanza Fuerte, Catherine Randall Paschal, Jenny M. Thies, James T. Bennett, Ian Glass, Katrina M. Dipple, Karynne Patterson, Emily S. Bonkowski, , Evan E. Eichler

This paper introduces targeted long-read sequencing to identify complex structural variants and disease-causing mutations missed by conventional methods, improving diagnostic accuracy in genetic disorders.

bioRxiv · Nov 3, 2020 · PreprintGenomics