Author

Astrid Marchal

Hôpital Necker-Enfants MaladesORCID 0000-0003-0648-8126Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jacques FellayiD· 2 shared Adem KarbuziD· 1 shared Adrian GervaisiD· 1 shared Agatha SchlüteriD· 1 shared Ahmad N. Abou TayouniD· 1 shared Alban Lermine· 1 shared Alessandro AiutiiD· 1 shared Alexandre BolzeiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Jacques FellayORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 11, 2024

MosCoverY: a new method to estimate mosaic Loss of Y chromosome from NGS sequencing coverage data

Valeriia Timonina, Astrid Marchal, Laurent Abel…·Jacques Fellay

MosCoverY estimates mosaic loss of the Y chromosome from NGS sequencing data, showing comparable performance to existing methods and replicating known associations.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineGenome MedicinePeer-reviewedApr 5, 2023

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with critical COVID-19

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal…·Michel Vidaud

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

80 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky