Article

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

2025-11-09

Abstract excerpt

Preimplantation genetic testing (PGT) for polygenic risk (PGT-P) holds great promise for reducing lifetime disease burden, but genotyping embryos remains difficult. PGT for aneuploidy (PGT-A) is a routine test used in over half of in vitro fertilization cycles in the United States, typically via ultra-low-pass (ULP) sequencing (∼0.004x) or, less commonly, genotyping arrays. Here we describe an approach that enabl...

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Literature Corpus work: 2df513a2-0df5-5534-b597-46472a612f36
DOI: 10.1101/2025.11.07.25339763

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