Best practices for variant calling in clinical sequencing
DC Koboldt - Genome Medicine, 2020 - Springer
Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …
abnormalities associated with 7000+ diseases—is used by thousands of researchers …
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 …
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …
of care is often a time-consuming stepwise approach involving chromosomal microarray …
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management
Importance While congenital malformations and genetic diseases are a leading cause of
early infant death, to our knowledge, the contribution of single-gene disorders in this group …
early infant death, to our knowledge, the contribution of single-gene disorders in this group …
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 …
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
D Monies, M Abouelhoda, M AlSayed, Z Alhassnan… - Human genetics, 2017 - Springer
In this study, we report the experience of the only reference clinical next-generation
sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of …
sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of …
De novo variants in neurodevelopmental disorders with epilepsy
Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …
[HTML][HTML] Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical …
Next-generation sequencing (NGS) technologies are now established in clinical laboratories
as a primary testing modality in genomic medicine. These technologies have reduced the …
as a primary testing modality in genomic medicine. These technologies have reduced the …