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Article

Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective.

American journal of medical genetics. Part A - 1 Dec 2025

Motwani Pooja, Maurya Rajesh K, Dhwoni, Phadke Shubha R, Moirangthem Amita

Abstract excerpt

Genomic sequencing identifies both primary findings related to a patient's phenotype and secondary findings (SFs) which are actionable with early intervention. In the Indian population, there is limited data about types and frequencies of SFs as well as on the understanding of patients' perspectives on receiving these findings. We identified P/LP variants in SF genes (ACMG v3.2) from 500 families who underwent...

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PMID: 40762361
DOI: 10.1002/ajmg.a.64199

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