Article

Rare-ID: The First Neonate Diagnostic Approach Using Genome Sequencing for Complex Pediatric Cases in a Greek Cohort

2024-06-12

Abstract excerpt

Newborn screening using biochemical tests is a widespread practice. However, the recent availability of genetic sequencing has enabled the rapid screening of many monogenic disorders. The purpose of our study was to assess the outcomes of whole exome sequencing (WES) and whole genome sequencing (WGS) as the primary newborn screening test. This cohort study enrolled 26 symptomatic neonates and infants exhibiting a...

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Literature Corpus work: cfd51da2-95ed-51ed-a477-4818dfb53bfb
DOI: 10.20944/preprints202406.0760.v1

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