Author

Kerry Goetz

National Institutes of HealthORCID 0000-0002-9821-7704Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:multiome· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Aime R. Agather· 1 shared Amelia NaikiD· 1 shared Anna MatyniaiD· 1 shared Bin GuaniD· 1 shared Brian P. BrooksiD· 1 shared Catherine A. CukrasiD· 1 shared Chelsea Bender· 1 shared Delphine BlainiD· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aime R. Agather

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 2, 2023

The qMini assay identifies an overlooked class of splice variants

Bin Guan, Chelsea Bender, Madhulatha Pantrangi…·Robert B. Hufnagel

The qMini assay identifies a new class of splice variants that reduce mature mRNA levels without altering sequence, suggesting a novel pathogenic mechanism.

1 citation

multiomeexperimental assay

𝕏 PostBluesky

GeneticsHuman Molecular GeneticsPeer-reviewedFeb 22, 2023

Systematic assessment of the contribution of structural variants to inherited retinal diseases

Shu Wen, Meng Wang, Xinye Qian…·Rui Chen

This study identifies 16 pathogenic structural variants in 16 IRD families using whole-genome sequencing, finding SVs contribute 2.1% to unresolved IRD cases but less than SNVs and indels.

12 citations

humanwhole-exome sequencing

𝕏 PostBluesky