The clinical utility of exome and genome sequencing across clinical indications: a systematic review
Exome sequencing and genome sequencing have the potential to improve clinical utility for
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …
Review of applications of high-throughput sequencing in personalized medicine: barriers and facilitators of future progress in research and clinical application
G Lightbody, V Haberland, F Browne… - Briefings in …, 2019 - academic.oup.com
There has been an exponential growth in the performance and output of sequencing
technologies (omics data) with full genome sequencing now producing gigabases of reads …
technologies (omics data) with full genome sequencing now producing gigabases of reads …
A draft human pangenome reference
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
S Petrovski, V Aggarwal, JL Giordano, M Stosic, K Wou… - The Lancet, 2019 - thelancet.com
Background Identification of chromosomal aneuploidies and copy number variants that are
associated with fetal structural anomalies has substantial value. Although whole-exome …
associated with fetal structural anomalies has substantial value. Although whole-exome …
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 …
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 …
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
By informing timely targeted treatments, rapid whole-genome sequencing can improve the
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …
Clinical sequencing: is WGS the better WES?
J Meienberg, R Bruggmann, K Oexle, G Matyas - Human genetics, 2016 - Springer
Current clinical next-generation sequencing is done by using gene panels and exome
analysis, both of which involve selective capturing of target regions. However, capturing has …
analysis, both of which involve selective capturing of target regions. However, capturing has …
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and
pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic …
pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic …