Early Diagnosis of Critically Ill Newborns

Use of this pipeline, which incorporated a machine learning process and clinical natural language processing (CLNP), could be key in broadly disseminating rapid whole genome sequencing (rWGS) to neonatal intensive care units (NICU), according to the researchers.

Standard rWGS with manual analysis and interpretation of genomic data for diagnosing genetic disorders in newborns typically takes a mean of 16 days, although the researchers in a prior study cut this to 26 hours.

The investigators deployed AI and other new technologies to tighten their rWGS workflow. They used a Nextera DNA Flex Library Prep Kit (Illumina) to manually prepare sequencing libraries directly from blood samples or dried blood spots, which cut out several prep steps. They also performed rWGS with the NovaSeq 6000 sequencer and S1 flow cell (Illumina), which is faster and less labor intensive than their legacy Illumina sequencer. In addition, they used an Illumina hardware and software platform (DRAGEN) “highly optimized for speed, sensitivity, and accuracy” to align and call variants.

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