Author

William B. Rizzo

Nebraska Medical CenterORCID 0000-0002-3686-0518Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Carl Schwendinger-Schreck· 2 shared Emily FarrowiD· 2 shared Gilad D. EvronyiD· 2 shared Isabelle ThiffaultiD· 2 shared Tom CurraniD· 2 shared Tomi PastineniD· 2 shared Warren CheungiD· 2 shared Aaron M. WengeriD· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Carl Schwendinger-Schreck

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 31, 2023

Pangenome graphs improve the analysis of rare genetic diseases

Cristian Groza, Carl Schwendinger-Schreck, Warren Cheung…·Tomi Pastinen

The paper uses pangenome graphs to improve detection of rare structural variants in a rare disease cohort, identifying novel diagnostic variants.

3 citations

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMay 29, 2023

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Warren Cheung, Adam F. Johnson, William J. Rowell…·Tomi Pastinen

The paper uses HiFi sequencing to identify hypermethylation outliers in a rare disease cohort, finding allele-specific loss of regulatory elements linked to disease.

49 citationstop 3%

humanwhole-genome sequencing

𝕏 PostBluesky