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

rTAG-I produced a high rate of reportable findings with a rapid turnaround time. Our ability to predict infants who would benefit most was imperfect, reinforcing that broad access to genome-based testing is still required.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-11-21
DOI
https://doi.org/10.1016/j.gimo.2025.103476
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
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Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants

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

Ian D. Krantz, Melissa A. Gilbert, Katharine Press Callahan, Ramakrishnan Rajagopalan, Natalie Burrill, Kelly Regan, Morgan L. McManus, Nancy Bettina Spinner, Kieran B. Pechter, Anthony Gacita, Maria Alejandra Diaz‐Miranda, Laura K. Conlin, K. Taylor Wild, Francis Jeshira Reynoso Santos, Sara L. Reichert, Kathleen H. Wood, Emma Bedoukian, Alexandra Heck, Jennifer A. Hershey, Matthew C. Dulik, David A. Munson
article en

Abstract

rTAG-I produced a high rate of reportable findings with a rapid turnaround time. Our ability to predict infants who would benefit most was imperfect, reinforcing that broad access to genome-based testing is still required.

Genetics in Medicine OpenVol. 4
Children's Hospital of Philadelphia (US), Hofstra University (US), Cohen Children's Medical Center (US), University of Pennsylvania (US)
Openalex Percentile: Top 63%
Genomics and Rare Diseases
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