Author

Sofie Metsu

University of Antwerp

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alejandro Martin-TrujilloiD· 1 shared Andrew J. SharpiD· 1 shared Beate R. RitziD· 1 shared Benedict PateniD· 1 shared Bharati Jadhav· 1 shared Hugh E. OlseniD· 1 shared Jozef GécziD· 1 shared Miten JainiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Alejandro Martin-TrujilloORCID

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1 paper

Recent·Most cited

A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansions

Paras Garg, Bharati Jadhav, Oscar L. Rodriguez, Nihir Patel, Alejandro Martin-Trujillo, Miten Jain, Sofie Metsu, Hugh E. Olsen, Benedict Paten, Beate R. Ritz, R. Frank Kooy, Jozef Gécz, Andrew J. Sharp

The paper surveys rare epigenetic variation in 23,116 human genomes, identifies disease-relevant epivariations, and discovers novel CGG expansions linked to folate-sensitive fragile sites.

The American Journal of Human Genetics · Sep 15, 2020Peer-reviewedGenomics