By examining genomic variation more closely, scientists can now identify new disease connections with greater speed and accuracy. For centuries, scientists have recognized that certain illnesses can ...

Scientists have long suspected connections between heredity and disease, dating back to Hippocrates, who observed certain ...

RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this ...

Single cell gene expression studies often rely on single-cell RNA sequencing (scRNA-seq) alone. While scRNA-seq reveals which genes are turned on, it does not capture protein expression or changes to ...