Understanding the genetic basis of human traits/diseases and the underlying mechanisms
of how these traits/diseases are affected by genetic variations is critical for public health …

Abstract Introduction Orofacial clefts (OFCs) are common craniofacial birth defects with
heterogeneous phenotype and etiology. Geneticists have applied nearly every available …

We assessed the performance of the new Life Technologies Proton sequencer by
comparing whole-exome sequence data in a Centre d'Etude du Polymorphisme Humain trio …

Motivation Improvements in next-generation sequencing have enabled genome-based
diagnosis for patients with genetic diseases. However, accurate interpretation of human …

Analyzing a patient with progressive and severe cardiac conduction disorder combined with
idiopathic ventricular fibrillation (IVF), we identified a splice site mutation in the sodium …

Patients with developmental disorders often harbour sub-microscopic deletions or
duplications that lead to a disruption of normal gene expression or perturbation in the copy …

High-throughput genomic data reveal thousands of gene variants per patient, and it is often
difficult to determine which of these variants underlies disease in a given individual …

Next-generation sequencing (NGS) technologies have played a central role in the genetic
revolution. These technologies, especially whole-exome sequencing, have become the …

Mitochondrial disorders have the highest incidence among congenital metabolic diseases,
and are thought to occur at a rate of 1 in 5000 births. About 25% of the diseases diagnosed …

Cardiovascular diseases (CVDs) are considered as the leading cause of death worldwide.
CVD continues to be a major cause of death and morbidity despite significant improvements …