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SHaRe investigators

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Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:protein structure· 1 Research Focus:protein structure prediction· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Iacopo OlivottoiD· 2 shared Michelle MichelsiD· 2 shared Adam S. HelmsiD· 1 shared Alexandre C. PereiraiD· 1 shared Anamika Kannan· 1 shared Andrea D. ThompsoniD· 1 shared Carlos D Bustamante· 1 shared Carolyn Ho· 1 shared

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2016-2021 · peak 1/yr

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10 top collaborators · 33 mutual co-author links

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2 shared papersGenetics

Iacopo OlivottoORCID

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2 papers

Recent·Most cited

GeneticsGenetics in MedicinePeer-reviewedMar 29, 2021

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

Andrea D. Thompson, Adam S. Helms, Anamika Kannan…·SHaRe investigators

The paper uses STRUM to predict subdomain stability in MYBPC3 variants, showing that variants causing misfolding are associated with higher adverse event rates in HCM patients.

16 citations

humanprotein structure

𝕏 PostBluesky

GenomicsbioRxivFeb 9, 2016

Multi-dimensional structure function relationships in human β-cardiac myosin from population scale genetic variation.

Julian R Homburger, Eric M Green, Colleen Caleshu…·Euan A Ashley

This study combines structural models of myosin, exome sequencing, and phenotypic data to identify disease-associated variants in specific structural regions of β-cardiac myosin linked to HCM severity.

DOI 10.1073/pnas.1606950113

humanwhole-exome sequencing

𝕏 PostBluesky