Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings
N Louw, N Carstens, Z Lombard… - Frontiers in …, 2023 - frontiersin.org
Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …
Germline CNV detection through whole-exome sequencing (WES) Data Analysis enhances Resolution of Rare Genetic Diseases
Whole-Exome Sequencing (WES) has proven valuable in the characterization of underlying
genetic defects in most rare diseases (RDs). Copy Number Variants (CNVs) were initially …
genetic defects in most rare diseases (RDs). Copy Number Variants (CNVs) were initially …
Beyond the kidney biopsy: genomic approach to undetermined kidney diseases
T Robert, L Raymond, M Dancer, J Torrents… - Clinical Kidney …, 2024 - academic.oup.com
Background According to data from large national registries, almost 20%–25% of patients
with end-stage kidney disease have an undetermined kidney disease (UKD). Recent data …
with end-stage kidney disease have an undetermined kidney disease (UKD). Recent data …
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Copy number variants (CNVs) are significant contributors to the pathogenicity of rare genetic
diseases and, with new innovative methods, can now reliably be identified from exome …
diseases and, with new innovative methods, can now reliably be identified from exome …
Prenatal finding of isolated ventricular septal defect: genetic association, outcomes and counseling
X Chen, Q Zhang, M Lu, Q Feng, L Qin, S Liao - Frontiers in Genetics, 2024 - frontiersin.org
The innovation in ultrasound has greatly promoted the prenatal diagnosis of ventricular
septal defect. As a minor lesion of congenital heart disease, the prenatal genetic counseling …
septal defect. As a minor lesion of congenital heart disease, the prenatal genetic counseling …
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test
F Sheth, J Shah, D Jain, S Shah, H Patel, K Patel… - BMC neurology, 2023 - Springer
Background Autism spectrum disorder (ASD) affects 1 in 100 children globally with a rapidly
increasing prevalence. To the best of our knowledge, no data exists on the genetic …
increasing prevalence. To the best of our knowledge, no data exists on the genetic …
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
M Wayhelova, V Vallova, P Broz, A Mikulasova… - Orphanet Journal of …, 2024 - Springer
Abstract Background Neurodevelopmental disorders (NDDs) and/or associated multiple
congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions …
congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions …
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
T Hayman, T Millo, K Hendler, I Chowers… - Journal of Medical …, 2024 - jmg.bmj.com
Background Inherited retinal diseases (IRDs) include a range of vision loss conditions
caused by variants in different genes. The clinical and genetic heterogeneity make …
caused by variants in different genes. The clinical and genetic heterogeneity make …
High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases
Y Zeng, H Ding, X Wang, Y Huang, L Liu, L Du… - Journal of Translational …, 2024 - Springer
Background Genetic disorders often manifest as abnormal fetal or childhood development.
Copy number variations (CNVs) represent a significant genetic mechanism underlying such …
Copy number variations (CNVs) represent a significant genetic mechanism underlying such …
A holistic approach to maximise diagnostic output in trio exome sequencing
S von Hardenberg, H Wallaschek, C Du… - Frontiers in …, 2023 - frontiersin.org
Introduction Rare genetic diseases are a major cause for severe illness in children. Whole
exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases …
exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases …