Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.

ABSTRACT:

Purpose

We developed a genome sequencing-based test (Rapid Targeted Analysis of the Genome for Infants [rTAG-I]) to minimize turnaround time while maximizing diagnostic yield and access to rapid sequencing for critically ill infants. We sought to create a system of predicting which infants would have a molecular finding.

Methods

We performed a prospective observational study of infants referred for genetics consult who received rTAG-I testing, which analyzes 3183 curated genes with phenotype-agnostic prioritization of pathogenic and likely pathogenic variants. Infants were stratified by perceived likelihood of a diagnostic result and divided into "Likely," "Uncertain," and "Not Likely." We also assessed whether reportable findings correlated with patient phenotypes.

Resul

SUBMITTER: Wild KT 

PROVIDER: S-EPMC12830093 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature