Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
LDM Pena, YH Jiang, K Schoch, RC Spillmann… - Genetics in …, 2018 - nature.com
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in
rare and undiagnosed diseases | Genetics in Medicine Skip to main content Thank you for …
rare and undiagnosed diseases | Genetics in Medicine Skip to main content Thank you for …
Secondary findings and carrier test frequencies in a large multiethnic sample
Background Besides its growing importance in clinical diagnostics and understanding the
genetic basis of Mendelian and complex diseases, whole exome sequencing (WES) is a rich …
genetic basis of Mendelian and complex diseases, whole exome sequencing (WES) is a rich …
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
Traditional approaches for gene mapping from candidate gene studies to positional cloning
strategies have been applied for Mendelian disorders. Since 2005, next-generation …
strategies have been applied for Mendelian disorders. Since 2005, next-generation …
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome …
Next-generation sequencing is changing the paradigm of clinical genetic testing. Today
there are numerous molecular tests available, including single-gene tests, gene panels, and …
there are numerous molecular tests available, including single-gene tests, gene panels, and …
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
Background Neurodevelopment is orchestrated by a wide range of genes, and the genetic
causes of neurodevelopmental disorders are thus heterogeneous. We applied whole exome …
causes of neurodevelopmental disorders are thus heterogeneous. We applied whole exome …
What can exome sequencing do for you?
Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …
shift in how medical researchers investigate both rare and common human disorders. The …
Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders
Importance Autosomal recessive inherited neurodevelopmental disorders are highly
heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives …
heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives …
New insights into the generation and role of de novo mutations in health and disease
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …
[HTML][HTML] Application of next-generation sequencing technologies in Neurology
T Jiang, MS Tan, L Tan, JT Yu - Annals of translational medicine, 2014 - ncbi.nlm.nih.gov
Genetic risk factors that underlie many rare and common neurological diseases remain
poorly understood because of the multi-factorial and heterogeneous nature of these …
poorly understood because of the multi-factorial and heterogeneous nature of these …