Author

Michael A. Iacocca

Stanford MedicineORCID 0000-0003-0074-4651Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:variant effect prediction· 3 Approach:benchmark study· 2 Research Focus:database / resource· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1

Frequent Co-Authors

Hannah WandiD· 3 shared Robert Alexander HegeleiD· 2 shared A. Cecile J.W. JanssensiD· 1 shared Alain CarriéiD· 1 shared Albi CelajiD· 1 shared Aleksander Milosavljevic· 1 shared Alexandre C. PereiraiD· 1 shared Alice B. PopejoyiD· 1 shared

Activity by Year

2021-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 14 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Hannah WandORCID

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4 papers

Recent·Most cited

BioinformaticsbioRxivPreprintSep 20, 2023

An RNA foundation model enables discovery of disease mechanisms and candidate therapeutics

Albi Celaj, Alice Jiexin Gao, Tammy Lau…·Brendan J. Frey

The paper introduces BigRNA, an RNA foundation model that predicts RNA biology from DNA sequence and identifies therapeutic effects of SBOs on gene expression and splicing.

29 citations

humanDNA methylation

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Genetic & Genomic MedicineGenome MedicinePeer-reviewedJan 17, 2022

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines

Christine G. Preston, Matt W. Wright, Rao Madhavrao…·Helio A. Costa

The paper introduces the ClinGen Variant Curation Interface, a platform for applying ACMG/AMP guidelines to classify genetic variants, enabling collaboration and standardization in clinical variant interpretation.

81 citationstop 1%

humanwhole-exome sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedNov 30, 2021

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý…·Mafalda Bourbon

The paper provides consensus guidelines for classifying LDLR variants in Familial Hypercholesterolemia using modified ACMG/AMP criteria.

170 citationstop 1%

humanwhole-exome sequencing

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Genetic & Genomic MedicineNaturePeer-reviewedMar 10, 2021

✦ In-depth digest

Improving reporting standards for polygenic scores in risk prediction studies

Hannah Wand, Samuel A. Lambert, Cecelia P. Tamburro…·Genevieve L. Wojcik

ClinGen and the PGS Catalog expand the GRIPS guideline into a 22-item Polygenic Risk Score Reporting Statement covering study populations, model construction, evaluation, and clinical interpretation.

476 citationstop 1%

humanGWAS summary statistics

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