Article

Noninvasive prenatal exome sequencing inefficient for detecting single-gene disorders – problems and possible solutions

2020-08-07

Abstract excerpt

<h4>What’s already known about this topic?</h4> Sequencing-based noninvasive testing can detect large copy number abnormalities and some auto-somal dominant single-gene disorders Exome sequencing (ES) on fetal samples provides 20% diagnostic yield for structural abnormalities after normal karyotype & microarray <h4>What does this study add?</h4> ES on cell-free DNA in three gravid patients with suspected genetic d...

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Literature Corpus work: 47abbecf-744b-5d40-a884-e78bef128129
DOI: 10.1101/2020.08.04.20168278

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