Background The invention of high throughput sequencing technologies has led to the discoveries of hundreds of thousands of genetic variants associated with thousands of human diseases. Many of these genetic variants are located outside the protein coding regions, and as such, it is challenging to interpret the function of these genetic variants by traditional genetic approaches. Recent genome-wide functional genomics studies, such as FANTOM5...

Routine clinical application of whole exome sequencing remains challenging due to difficulties in variant interpretation, large dataset management and workflow integration. We describe a tool named ClinLabGeneticist to implement a workflow in clinical laboratories for management of variant assessment in genetic testing and disease diagnosis. We established an extensive variant annotation data source for the identification of pathogenic...

PURPOSE: The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome. To define the phenotype associated with a novel inherited disorder of cytosolic endoplasmic reticulum-associated degradation pathway dysfunction, we studied a series of eight patients with deficiency of N-glycanase 1....

Please download the instruction here: Guidline-of-ClinLabGeneticist

Cardiovascular diseases are among the leading causes of morbidity and mortality in the developed world despite advances in cardiac care over the last few decades. Although most of these advances in cardiovascular medicine have been made through trials of therapies on a population scale, the success of such therapies in a patient often is dependent on particular aspects of each individual. In this review, we present the evidence for the impact...