Author

Jenny Meylan

Centre Hospitalier Universitaire Vaudois

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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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Federico Andrea SantoniiD· 2 shared Melivoia RaptiiD· 2 shared Stylianos E. AntonarakisiD· 2 shared Aleš HoloubekiD· 1 shared Callum J. WilsoniD· 1 shared Christelle BoreliD· 1 shared Emmanuelle RanzaiD· 1 shared Jesse D. RademakeriD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersBioinformatics

Federico Andrea SantoniORCID

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Author profile →

2 papers

Recent·Most cited

CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications

Melivoia Rapti, Yassine Zouaghi, Jenny Meylan, Emmanuelle Ranza, Stylianos E. Antonarakis, Federico Andrea Santoni

CoverageMaster detects and visualizes CNVs in exome and genome data using wavelet compression and HMM, potentially replacing probe-based methods.

Briefings in Bioinformatics · Feb 14, 2022Peer-reviewedBioinformatics

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2

Stylianos E. Antonarakis, Aleš Holoubek, Melivoia Rapti, Jesse D. Rademaker, Jenny Meylan, Justyna Iwaszkiewicz, Vincent Zoete, Callum J. Wilson, Juliet P. Taylor, Muhammad Ansar, Christelle Borel, Olivier Menzel, Kateřina Kuželová, Federico Andrea Santoni

The paper identifies a dominant monoallelic PAK2 variant causing Knobloch syndrome type 2 with intellectual disability and retinal degeneration.

Human Molecular Genetics · Mar 1, 2021Peer-reviewedGenetics