exome arrays
Rare Variant Study Suggests Blood Pressure Traits May Have Ties to Development, Heart Conditions
Exome array-wide association and rare variant-focused genome-wide association meta-analyses led to 87 rare variants with ties to one or more blood pressure traits.
Though some experts prefer the comprehensive nature of whole-genome sequencing, others find whole-exome sequencing or targeted exome panels to be more useful.
Dozens of Variants Linked to Body Fat Distribution in Exome-Wide Analysis
Researchers from the Genetics Investigation of Anthropometric Traits consortium tied loci in lipid homeostasis and other pathways to differences in waist-to-hip ratio.
Exome Analysis Links Three Variants to Pancreatic Cancer in Chinese Population
One of the variants leads to increased phosphorylation of a signaling pathway as well as to increased cell proliferation, hinting at how it contributes to disease risk.
Esophageal Cancer GWAS Leads to Low-Frequency Risk Variants
Exome sequences from thousands of Chinese individuals with or without esophageal squamous cell carcinoma led to six new germline risk variants.