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Peer-Reviewed Publication
BMC Med Genomics2026;19(1):4.January 5, 2026Journal Article

Defining an approach to empower clinical geneticists to do genomic reanalysis.

Michael M Segal1, Meriel McEntagart2, Alexander T Deng3, Andrea Haworth4, Brian King4, Anthony Rogers4, John Filby4, John Short2, Mary Grace Hash5, Lynette C Rives5, Kimberly M Ezell5, , John A Phillips5
1SimulConsult Inc, Chestnut Hill, MA, United States. medicalgenomics2025@simulconsult.com.
2St George's University NHS Foundation Trust, London, UK.
3Guy's & St Thomas's NHS Foundation Trust, London, UK.
4Congenica, Cambridge, UK.
5Vanderbilt University Medical Center, Nashville, TN, United States.
PubMed PMC DOI PDF

Abstract

BACKGROUND: Sequencing reanalysis can benefit from the inclusion of new information about the patient and from the literature. We studied approaches needed to make reanalysis part of routine follow-up by clinical geneticists. METHODS: Reanalysis used the SimulConsult diagnostic decision support software, which generates a pertinence metric for gene zygosities determined from the variant table and…

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