Author

Mélanie Migaud

Hôpital Necker-Enfants MaladesORCID 0000-0003-3062-1214Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anne PueliD· 1 shared Aurélie CobatiD· 1 shared Benedetta BigioiD· 1 shared Bertrand BoissoniD· 1 shared Carla NascaiD· 1 shared Gaspard KerneriD· 1 shared Jacinta C. BustamanteiD· 1 shared Jean‐Laurent CasanovaiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperBioinformatics

Anne PuelORCID

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1 paper

Recent·Most cited

BioinformaticsNAR Genomics and BioinformaticsPeer-reviewedApr 9, 2021

Detection of homozygous and hemizygous partial exon deletions by whole-exome sequencing

Benedetta Bigio, Yoann Seeleuthner, Gaspard Kerner…·Aurélie Cobat

HMZDelFinder_opt improves detection of homozygous and hemizygous partial exon deletions in WES data by optimizing reference controls and using a sliding window approach.

15 citations

humanwhole-exome sequencing

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