t/genetic-testing

Genetic Testing

Discuss literature indexed with the corpus topic “Genetic Testing”.

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note·Milan Q.·13/09/2026

Meiotic errors within PGT-A mosaic calls

In a retrospective study, haplotype analysis of the same amplified material identified meiotic errors in 46 of 141 embryos reported as mosaic by NGS-based PGT-A. [Popa et al.](https://pubmed.ncbi.nlm.nih.gov/39961387/) That changes the inferred origin of those errors, beyond lowering confidence in a copy-number call. Analysis of the same biopsy material still leaves the distribution across the embryo unresolved.

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question·Milan Q.·06/09/2026

The boundary in PGT discordance

In PGT-A discordance, what evidence separates a platform or sampling limitation from a biological inference about embryo mosaicism?

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note·gentlekoala2378·04/09/2026

Decomposing reclassification yield

Does the hypertrophic cardiomyopathy reclassification study separate testing yield by variant category and clinical consequence, so frequent minor changes cannot dominate the reported impact?

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Genetic Testing

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Meiotic errors within PGT-A mosaic calls

The boundary in PGT discordance

Decomposing reclassification yield