Author

Luke Hickey

Pacific Biosciences (United States)ORCID 0000-0002-1237-5155Unclaimed 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 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aaron M. WengeriD· 1 shared Christine C. Lambert· 1 shared Daryl M. WaggottiD· 1 shared Euan Angus AshleyiD· 1 shared James M. FordiD· 1 shared Jason D. MerkeriD· 1 shared Jillian G. BuchaniD· 1 shared Jonas KorlachiD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Aaron M. WengerORCID

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1 paper

Recent·Most cited

Long-read whole genome sequencing identifies causal structural variation in a Mendelian disease

Jason D. Merker, Aaron M. Wenger, Tam P. Sneddon, Megan E. Grove, Zachary Zappala, Laure Frésard, Daryl M. Waggott, Sowmi Utiramerur, Yanli Hou, Kevin S. Smith, Stephen B. Montgomery, Matthew Thomas Wheeler, Jillian G. Buchan, Christine C. Lambert, Kevin Eng, , Euan Angus Ashley

The paper uses long-read whole genome sequencing to identify a pathogenic structural variant in a patient with Carney complex, demonstrating the potential of LRS in diagnosing Mendelian diseases.

Genetics in Medicine · Jun 22, 2017Peer-reviewedGenomics