Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …

Induced pluripotent stem cells (iPSCs) are a type of pluripotent stem cells generated directly
from mature cells through the introduction of key transcription factors. iPSCs can be …

Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …

High-throughput DNA sequencing technology has transformed genetic research and is
starting to make an impact on clinical practice. However, analyzing high-throughput …

To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …

Background Although there is increasing recognition of the role of somatic mutations in
genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and …

Nearly all of the genetic material among cells within an organism is identical. However,
single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants …

With advancing technology and the consequent shift towards an increasing application of
molecular genetic techniques (eg, microarrays, next-generation sequencing) with the …

In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex,
as many metabolic and electro-physiological processes have been implicated in disease …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …