P626: ImputePGTA: Accurate embryo genotyping and polygenic scoring from ultra-low-pass sequencing

Jeremy Li; Tobias Wolfram; Ivan Davidson; Justin Schleede; Jennifer A. Swift; Spencer Moore; David Stern; Michael Christensen; Alex Young

doi:10.1016/j.gimo.2026.104116

January 1, 2026Genetics in Medicine OpenOpen Access

P626: ImputePGTA: Accurate embryo genotyping and polygenic scoring from ultra-low-pass sequencing

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Key Points

The research aims to classify MEN1 haplotypes based on variant identification and their clinical significance.
Identification of MEN1 haplotypes through variant classification and internal review.
Utilization of in silico predictive tools and population frequency data for variant analysis.
Assessment of clinical history associated with haplotypes in affected individuals.
Two MEN1 haplotypes were identified with multiple variants, classified as likely pathogenic.
Affected individuals presented various MEN1-related health issues, while some family members were unaffected.
Variations showed limited literature documentation, highlighting the need for careful clinical assessment.

Implication

This analysis identifies likely pathogenic MEN1 haplotypes contributing to clinical features, suggesting diagnostic implications for familial screening.

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Cite This Study

Li et al. (2026) studied this question.

synapsesocial.com/papers/69ada804bc08abd80d5bb282 https://doi.org/10.1016/j.gimo.2026.104116

View Full Paper

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P626: ImputePGTA: Accurate embryo genotyping and polygenic scoring from ultra-low-pass sequencing

Key Points

Implication

Discussion

Cite This Study

P626: ImputePGTA: Accurate embryo genotyping and polygenic scoring from ultra-low-pass sequencing

Key Points

Implication

Discussion

Cite This Study

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