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....

SEQC/MAQC-III Consortium. A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium. Nat Biotechnol. 2014 Sep;32(9):903-14. doi: 10.1038/nbt.2957. PMID:25150838  Dr. Rong Chen is in SEQC consortium. Here is the paper SEQC_NatBiotech. http://www.nature.com/nbt/journal/v32/n9/full/nbt.2957.html Abstract We present primary results from the Sequencing Quality Control (SEQC)...

Abstract:   Glicksberg B.S., Li L., Cheng W., Shameer K., Hakenberg J., Castellanos R., Meng M., Shi L., Shah H., Dudley J.T., Chen R., An integrated pipeline for multi-modal discovery of disease relationships.Pac Symp Biocomputp 2015

Genome-wide association studies have identified genetic variants for thousands of diseases and traits. We evaluated the relationships between specific risk factors (for example, blood cholesterol level) and diseases on the basis of their shared genetic architecture in a comprehensive human disease–single-nucleotide polymorphism association database (VARIMED), analyzing the findings from 8962 published association studies. Similarity between...

BACKGROUND: Whole genome sequencing is poised to revolutionize personalized medicine, providing the capacity to classify individuals into risk categories for a wide range of diseases. Here we begin to explore how whole genome sequencing (WGS) might be incorporated alongside traditional clinical evaluation as a part of preventive medicine. The present study illustrates novel approaches for integrating genotypic and clinical information for...

BACKGROUND: Long-term environmental variables are widely understood to play important roles in DNA variation. Previously, clinical studies examining the impacts of these variables on the human genome were localized to a single country, and used preselected DNA variants. Furthermore, clinical studies or surveys are either not available or difficult to carry out for developing countries. A systematic approach utilizing bioinformatics to identify...