Author

Steve Shih-Lin Huang

Broad InstituteORCID 0009-0001-5879-0880Unclaimed 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 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alan H. BeggsiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Ana TöpfiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Carolyn LeiD· 1 shared Carsten G. BönnemanniD· 1 shared Casie A. GenettiiD· 1 shared Christina Anne Austin-TseiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alan H. BeggsORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedApr 1, 2024

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell…·Anne O’Donnell‐Luria

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

26 citationstop 2%

humanwhole-exome sequencing

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