Robuta

This integrative genomic study identifies novel risk loci and mechanistic pathways in SSc, highlighting MICB, NOTCH4, and interferon-related genes. The...

CB-Gene quantifies tumor mutational burden using whole exome sequencing and rigorous bioinformatics to support immunotherapy decision making. Send sample...

Our review demonstrates that ES consistently outperforms CMA for evaluation of unexplained NDDs. We propose a diagnostic algorithm placing ES at the beginning...

Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast...

Blood lipids are important risk factors for coronary artery disease (CAD). Here we perform an exome-wide association study by genotyping 12,685 Chinese, using...

Your gateway to personalized genetic counseling and cutting-edge genomics. Access certified genetic counselors, educational resources, and remote support....

Copy number variation (CNV) has been found to play an important role in human disease. Next-generation sequencing technology, including whole-genome sequencing...

Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. Relevant CNVs are hard to detect because common structural...

Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that...

Chromosomal microarray is recommended as the first line of investigation in neurodevelopmental disorders (NDDs). However, advances in next-generation...

To catalog protein-altering mutations that may drive the development of prostate cancers and their progression to metastatic disease systematically, we...