exome sequencing
Dilated Cardiomyopathy Gene Mutations Point to Possible Therapeutic Strategy
Homozygous loss-of-function mutations in the BAG5 gene turned up in a subset of inherited DCM patients, and BAG5 appeared amenable to gene therapy in mouse models.
Pediatric Cardiomyopathy Exome Sequencing Study Suggests More Disease Genes to be Found
The researchers were able to reach a molecular diagnosis for about a third of their cohort, but that varied based on age, ancestry, and cardiomyopathy subtype.
Analysis of Multi-Ancestry Cohort Uncovers Dozens of Genes Linked to Blood Lipid Levels
The researchers conducted gene-based association testing of blood lipid levels in more than 170,000 individuals of various ancestral backgrounds.
Variant Identified in Amish Population Appears to Protect From Cardiovascular Disease
A rare missense variant in the enzyme-coding gene B4GALT1 is linked to lower coronary artery disease risk and reduced blood LDL cholesterol levels.
Multiple Myeloma Patient Similarity Network Reveals Prognostically Informative Subgroups
Researchers identified 12 multiple myeloma subgroups based on mutation, copy number, chromosomal rearrangement, and expression features in more than 650 tumors.