[HTML][HTML] A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
SF Kingsmore, LD Smith, CM Kunard… - The American Journal of …, 2022 - cell.com
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders
by treatment before symptom onset. In many genetic diseases, however, outcomes remain …
by treatment before symptom onset. In many genetic diseases, however, outcomes remain …
[HTML][HTML] Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse …
CCY Chung, SPY Hue, NYT Ng, PHL Doong… - Genetics in …, 2023 - Elsevier
Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American …
K Manickam, MR McClain, LA Demmer, S Biswas… - Genetics in …, 2021 - nature.com
Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care
D Dimmock, S Caylor, B Waldman, W Benson… - The American Journal of …, 2021 - cell.com
Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive
care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine …
care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine …
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …
Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: a randomized clinical trial
ID Krantz, L Medne, JM Weatherly, KT Wild… - JAMA …, 2021 - jamanetwork.com
Importance Whole-genome sequencing (WGS) shows promise as a first-line genetic test for
acutely ill infants, but widespread adoption and implementation requires evidence of an …
acutely ill infants, but widespread adoption and implementation requires evidence of an …
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
MJ Owen, S Lefebvre, C Hansen, CM Kunard… - Nature …, 2022 - nature.com
While many genetic diseases have effective treatments, they frequently progress rapidly to
severe morbidity or mortality if those treatments are not implemented immediately. Since …
severe morbidity or mortality if those treatments are not implemented immediately. Since …
[HTML][HTML] A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants
The second Newborn Sequencing in Genomic Medicine and Public Health study was a
randomized, controlled trial of the effectiveness of rapid whole-genome or-exome …
randomized, controlled trial of the effectiveness of rapid whole-genome or-exome …
An RCT of rapid genomic sequencing among seriously ill infants results in high clinical utility, changes in management, and low perceived harm
Summary The second Newborn Sequencing in Genomic Medicine and Public Health
(NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing …
(NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing …
Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project
Genomic sequencing provides many opportunities in newborn clinical care, but the
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …