Author

Mihai Puia‐Dumitrescu

Seattle Children's HospitalORCID 0000-0002-7847-5204Unclaimed ORCID profile · follow to get notified of new preprints

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 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrew B. StergachisiD· 1 shared Androo J. Markham· 1 shared Benjamin J. MalloryiD· 1 shared Cate Randall PaschaliD· 1 shared Christina M. LockwoodiD· 1 shared Daniel R. Garalde· 1 shared Danny E. MilleriD· 1 shared Erika BeckmaniD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrew B. StergachisORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewedJan 1, 2024

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

Miranda Pg Zalusky, Jonas A. Gustafson, Stephanie C. Bohaczuk…·Danny E. Miller

This study demonstrates rapid whole-genome sequencing and targeted analysis within three hours to assess genetic risk in a newborn, showing they are not affected or a carrier for a specific Mendelian condition.

26 citationstop 4%

humanwhole-genome sequencing

𝕏 PostBluesky