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. 2023 Oct 11;11(4):101137.
doi: 10.1016/j.gendis.2023.101137. eCollection 2024 Jul.

Incidental and secondary findings in trio exome sequencing

Camille Cohen  1 , Emeline Bellanger  2 , Jeremie Mortreux  3 , Laure Raymond  3 , François Vialard  1   2 , Rodolphe Dard  1
Affiliations

Incidental and secondary findings in trio exome sequencing

Camille Cohen et al. Genes Dis. .
No abstract available

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Figures

Figure 1
Figure 1
Secondary findings (SFs) in 100 trio exome sequencing (ES). (A) Cohort description. (B) Total P/LP variants as SFs per 100 trio ES. (C) SFs and diagnosis yield per trio ES. (D) Median, minimum, maximum, and quartiles of the number of SFs per trio ES. (E) Recurrence in genes of SFs. (F) mode of inheritance in genes of SFs. (G) SFs found in the 3 lists of genes. (H) Clinical grade of SFs. (I–K) Considerations for clinical grade, respectively for high clinical impact, familial interest and low clinical impact.
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References

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