Rapid genomic sequencing for genetic disease diagnosis and ...

Rapid genome sequencing (RGS), ultra-rapid genome sequencing (URGS), and rapid exome sequencing (RES) are diagnostic tests for genetic diseases for ICU ...

Rapid genomic sequencing for genetic disease diagnosis ... - PubMed

Rapid genome sequencing (RGS), ultra-rapid genome sequencing (URGS), and rapid exome sequencing (RES) are diagnostic tests for genetic diseases for ICU ...

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis ...

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A rapid whole-genome sequencing pipeline optimized for speed ...

Rapid whole-genome sequencing (rWGS) is an alternative to standard genome sequencing, with the potential to offer fast and accurate diagnosis of rare genetic ...

National Rapid Genome Sequencing in Neonatal Intensive Care

To our knowledge, we have conducted the first prospective national pilot of trio rGS (rtGS) as a single test for genomic diagnosis in critically ...

Delivering genome sequencing for rapid genetic diagnosis ... - Nature

Rapid genomic sequencing (RGS) is increasingly being used in the care of critically ill children. Here we describe a qualitative study ...

New Law Adds Rapid Genomic Testing for Rare Diseases to ...

“The rapid whole genome sequence allows us to know when there are variants in known genes, whether there are specific proteins that are not ...

Implementation of Rapid Genome Sequencing for Critically Ill Infants ...

Rapid genome sequencing (rGS) has been shown to improve care of critically ill infants. Congenital heart disease (CHD) is a leading cause of ...

Rapid genome sequencing highly effective at diagnosing babies ...

Rapid genome sequencing, that can detect rare genetic diseases within weeks, is highly effective at diagnosing babies with epilepsy and leads to better ...

Rapid genome sequencing for pediatrics - Jezkova - 2022

The advancements made in next-generation sequencing (NGS) technology over the past two decades have transformed our understanding of genetic ...

RapidOmics 2.0: Long-read genomic sequencing for urgent genetic ...

Long‐read genome sequencing offers the promise of greater diagnostic sensitivity and shorter turn‐around‐time for urgent diagnosis of genetic disease. Over ...

Rapid Paediatric Sequencing (RaPS) - Journal of Medical Genetics

To date, whole genome sequencing (WGS) approaches have proved successful in diagnosing a proportion of children with rare diseases, but results may take months ...

GenomeXpress® - Duo - Rapid Genome Sequencing - GeneDx

Based on current published guidelines, exome or genome sequencing can now be considered as first-tier tests for patients with unexplained epilepsy, ...

Rapid diagnostic genome sequencing for genetic diseases in ...

For acutely ill inpatients, rapid genome sequencing can provide a molecular diagnosis (or rule out suspected genetic disorders) in a day.2 From 2012 to 2021, 31 ...

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene ...

The Genomic Medicine in Ill Infants and Newborns (GEMINI) study examined the time to diagnosis, molecular diagnostic yield, and clinical utility ...

3-hour genome sequencing and targeted analysis to rapidly assess ...

We tested whether a simplified DNA extraction and library preparation process would enable us to perform ultrarapid assessment of genetic risk for a Mendelian ...

Rare Disease Whole-Genome Sequencing - Illumina

Whole-genome sequencing for rare disease has the power to help doctors diagnose genetic diseases quickly, helping families avoid long diagnostic odysseys.

Diagnosis of genetic diseases in seriously ill children by rapid whole ...

Genome sequencing was expedited by bead-based genome library preparation directly from blood samples and sequencing of paired 100-nt reads in ...

GenomeXpress® - Proband - Rapid Genome Sequencing - GeneDx

Based on current published guidelines, exome or genome sequencing can now be considered as first-tier tests for patients with unexplained epilepsy, ...

Record-breaking rapid DNA sequencing promises timely diagnosis ...

In just 7 hours, 18 minutes, a team of researchers at Stanford Medicine went from collecting a blood sample to offering a disease diagnosis.