Author

Michael C. Sierant

BioMarin (United States)ORCID 0000-0003-2052-3418Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:DNA methylation· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Arthur WüsteriD· 1 shared Carol J. Nelson-WilliamsiD· 1 shared Christopher CastaldiiD· 1 shared Daniel J. GaffneyiD· 1 shared Evan WittiD· 1 shared James KnightiD· 1 shared Nicholas KnoblauchiD· 1 shared Renan E. AparicioiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Arthur WüsterORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 11, 2025

Benchmarking autosomal recessive disease prevalence estimation from allele frequencies against newborn screening data

Michael C. Sierant, Nicholas Knoblauch, Evan Witt…·Arthur Wüster

The paper benchmarks genetic prevalence estimates of autosomal recessive diseases against newborn screening data, finding concordance influenced by population databases and ancestry matching.

DOI 10.1101/2025.10.11.25337773

humanDNA methylation

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintApr 28, 2025

Mutations in 329 probands with suspected renal electrolyte disorders

Renan E. Aparicio, Sheng Chih Jin, Weilai Dong…·Richard P. Lifton

The paper identifies genetic mutations in 329 patients with suspected renal electrolyte disorders, finding known/likely disease-causing variants in 295 probands and highlighting non-coding variants and novel mitochondrial mutations.

DOI 10.1101/2025.04.28.25326317

humanwhole-exome sequencing

𝕏 PostBluesky