Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
As test costs decline, whole-exome sequencing (WES) has become increasingly used for
clinical diagnosis, and now represents the primary alternative to gene panel testing for …
clinical diagnosis, and now represents the primary alternative to gene panel testing for …
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
NB Tan, R Stapleton, Z Stark… - Molecular genetics & …, 2020 - Wiley Online Library
Background Our primary aim was to evaluate the systematic reanalysis of singleton exome
sequencing (ES) data for unsolved cases referred for any indication. A secondary objective …
sequencing (ES) data for unsolved cases referred for any indication. A secondary objective …
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
Exome sequencing (ES) has become one of the important diagnostic tools in clinical
genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the …
genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the …
[HTML][HTML] Clinical application of genome and exome sequencing as a diagnostic tool for pediatric patients: a scoping review of the literature
Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment
MC Nurchis, G Altamura, MT Riccardi, FC Radio… - Archives of Public …, 2023 - Springer
Background About 80% of the roughly 7,000 known rare diseases are single gene
disorders, about 85% of which are ultra-rare, affecting less than one in one million …
disorders, about 85% of which are ultra-rare, affecting less than one in one million …
Rapid targeted genomics in critically ill newborns
CC Van Diemen, WS Kerstjens-Frederikse… - …, 2017 - publications.aap.org
BACKGROUND: Rapid diagnostic whole-genome sequencing has been explored in
critically ill newborns, hoping to improve their clinical care and replace time-consuming …
critically ill newborns, hoping to improve their clinical care and replace time-consuming …
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial
ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the …
ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the …
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield
of patients with rare diseases. However, the cost and efforts required for reanalysis prevent …
of patients with rare diseases. However, the cost and efforts required for reanalysis prevent …
[HTML][HTML] Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
Purpose Exome and genome sequencing (ES/GS) are performed frequently in patients with
congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the …
congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the …
Improving diagnostics of rare genetic diseases with NGS approaches
M Vinkšel, K Writzl, A Maver, B Peterlin - Journal of Community Genetics, 2021 - Springer
According to a rough estimate, one in fifteen people worldwide is affected by a rare disease.
Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare …
Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare …