Author

Pawel Buczkowicz

ORCID 0000-0002-6469-1475Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Assay:long-read sequencing· 1 Approach:machine learning (classical)· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aaron M. WengeriD· 1 shared Adam M. Walter· 1 shared Ahmed T. AbdelmoityiD· 1 shared Ana S.A. CoheniD· 1 shared Ann C. ModrciniD· 1 shared Annapoorna Nair· 1 shared Ashley M. CooperiD· 1 shared Bonnie R. SullivaniD· 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

Aaron M. WengerORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 16, 2022

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Ana S.A. Cohen, Emily Farrow, Ahmed T. Abdelmoity…·Tomi Pastinen

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.

96 citationstop 1%

humanwhole-exome sequencing

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