[HTML][HTML] Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature
Purpose We conducted a systematic literature review to summarize the current health
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …
[HTML][HTML] Genetics of mitochondrial diseases: Identifying mutations to help diagnosis
SL Stenton, H Prokisch - EBioMedicine, 2020 - thelancet.com
Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …
of inherited diseases. The vast phenotypic overlap with other disease entities together with …
[HTML][HTML] Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
SH Lelieveld, MRF Reijnders, R Pfundt… - Nature …, 2016 - nature.com
To identify candidate genes for intellectual disability, we performed a meta-analysis on
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …
[HTML][HTML] A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease
A Pecci, X Ma, A Savoia, RS Adelstein - Gene, 2018 - Elsevier
The MYH9 gene encodes the heavy chain of non-muscle myosin IIA, a widely expressed
cytoplasmic myosin that participates in a variety of processes requiring the generation of …
cytoplasmic myosin that participates in a variety of processes requiring the generation of …
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
An accurate diagnosis is an integral component of patient care for children with rare genetic
disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES) …
disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES) …
Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions
Importance Optimal use of whole-exome sequencing (WES) in the pediatric setting requires
an understanding of who should be considered for testing and when it should be performed …
an understanding of who should be considered for testing and when it should be performed …
[HTML][HTML] A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
LELM Vissers, KJ Van Nimwegen, JH Schieving… - Genetics in …, 2017 - nature.com
Purpose: Implementation of novel genetic diagnostic tests is generally driven by
technological advances because they promise shorter turnaround times and/or higher …
technological advances because they promise shorter turnaround times and/or higher …
[HTML][HTML] Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Purpose Using exome sequencing, the underlying variants in many persons with autosomal
recessive diseases remain undetected. We explored autosomal recessive Stargardt disease …
recessive diseases remain undetected. We explored autosomal recessive Stargardt disease …