Author

Abigail Sveden

ORCID 0000-0003-2350-5995Unclaimed 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 effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adolfo CorreaiD· 1 shared Alanna C. MorrisoniD· 1 shared Alex P. ReineriD· 1 shared Allan R LinnebergiD· 1 shared Andrew D. MorrisiD· 1 shared Andy Dahl· 1 shared Angélica Graciela Martínez-HernándeziD· 1 shared Ben WeisburdiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adolfo CorreaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedJun 9, 2021

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Julia K. Goodrich, Moriel Singer‐Berk, Rachel Son…·Kerrin S. Small

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

4 citations

humanwhole-exome sequencing

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