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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Nicole RevencuAstrid EijkelenboomClaire BracquemartPia AlhopuroJudith ArmstrongEulalia BaselgaClaudia CesarioMaria Lisa DenticiMelanie EyriesSofia FriskHelena Gásdal KarstensenNagore Gene-OlacireguiSirpa KivirikkoCinzia LavarinoInger-Lise MeroRodolphe MichielsElisa PisaneschiBitten Schönewolf-GreulichIlse WielandMartin ZenkerMiikka Vikkula
Published in: Orphanet journal of rare diseases (2024)
This work provides a detailed evidence-based view of the gene-disease associations in the field of vascular malformations caused by somatic variants. Knowing both the gene-phenotype relationships and the strength of the associations greatly help laboratories in data interpretation and eventually in the clinical diagnosis. This study reflects the state of knowledge as of mid-2023 and will be regularly updated on the VASCERN-VASCA website (VASCERN-VASCA, https://vascern.eu/groupe/vascular-anomalies/ ).
Keyphrases
  • copy number
  • genome wide
  • dna methylation
  • healthcare
  • genome wide identification
  • machine learning
  • gene expression
  • big data
  • transcription factor
  • genome wide analysis