Author

Heather J. Major

University of Iowa Hospitals and ClinicsORCID 0009-0008-9539-1898Unclaimed 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 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alyssa S. WetzeliD· 2 shared Benjamin W. DarbroiD· 2 shared John Robert ManakiD· 2 shared Mrutyunjaya ParidaiD· 2 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

4 top collaborators · 6 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alyssa S. WetzelORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 17, 2022

Benign-Ex: Delineating Regions of the Human Genome Benign to Copy Number Variation.

Alyssa S. Wetzel, Heather J. Major, Mrutyunjaya Parida…·Benjamin W. Darbro

Benign-Ex identifies genome regions tolerant to copy number variation by integrating CNV databases, finding 41.1% and 37.6% of the genome benign using DGV and ClinGen respectively.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintSep 26, 2022

DISCRIMINATOR: Assigning Cohort-Wide Provisional Pathogenicity Classifications to CNVs

Alyssa S. Wetzel, Heather J. Major, Mrutyunjaya Parida…·Benjamin W. Darbro

DISCRIMINATOR assigns provisional pathogenicity classifications to CNVs in a cohort, identifying common benign and primary CNVs and improving classification consistency.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky