Author

Alessandro De Falco

Telethon Institute Of Genetics And MedicineORCID 0000-0003-1569-1556Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:phylogenetics / evolution· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexander HoischeniD· 1 shared Amber den OudeniD· 1 shared Bregje W.M. van BoniD· 1 shared Christian GilisseniD· 1 shared Christian Patrick SchaafiD· 1 shared David PorubskỳiD· 1 shared DongAhn YooiD· 1 shared Evan E. EichleriD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alexander HoischenORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintOct 8, 2026

Distinct mechanisms of CNV formation at the human 15q13.3 locus

Wolfram Höps, David Porubskỳ, DongAhn Yoo…·Christian Gilissen

The paper identifies distinct mechanisms of CNV formation at the human 15q13.3 locus, showing that non-allelic homologous recombination is the primary mechanism, influenced by inversion polymorphisms and population-specific susceptibility.

1 citation

humanwhole-genome sequencing

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