Article

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

2022-09-13

Abstract excerpt

<h4>ABSTRACT</h4> Rapid genetic testing in the critical care setting enables targeted evaluations, directs therapies, and helps families and care providers make informed decisions about goals of care. We tested whether we could perform ultra-rapid assessment of genetic risk for a Mendelian condition, based on information from an affected sibling, in a newborn via whole-genome sequencing using the Oxford Nanopore p...

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Literature Corpus work: 71790014-e50a-5259-8d49-8e21f1394ec6
DOI: 10.1101/2022.09.09.22279746

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