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Machine learning-enhanced noninvasive prenatal testing of monogenic disorders.

Prenatal diagnosis - 1 Aug 2024

Liscovitch-Brauer Noa, Mesika Ravit, Rabinowitz Tom, Volkov Hadas, Grad Meitar, Matar Reut Tomashov, Basel-Salmon Lina, Tadmor Oren, Beker Amir, Shomron Noam

Abstract excerpt

OBJECTIVE: Single-nucleotide variants (SNVs) are of great significance in prenatal diagnosis as they are the leading cause of inherited single-gene disorders (SGDs). Identifying SNVs in a non-invasive prenatal screening (NIPS) scenario is particularly challenging for maternally inherited SNVs. We present an improved method to predict inherited SNVs from maternal or paternal origin in a genome-wide manner....

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PMID: 38687007
DOI: 10.1002/pd.6570

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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