Genome sequencing projects are discovering millions of genetic variants in humans, and
interpretation of their functional effects is essential for understanding the genetic basis of …

The genetic architecture of common traits, including the number, frequency, and effect sizes
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …

Background The genetic cause of intellectual disability in most patients is unclear because
of the absence of morphological clues, information about the position of such genes, and …

Primary aldosteronism is the most prevalent form of secondary hypertension. To explore
molecular mechanisms of autonomous aldosterone secretion, we performed exome sequencing …

Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. …

Background Corticotropin-independent Cushing's syndrome is caused by tumors or
hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol-producing adrenal …

Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders
characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations …

Deep sequencing techniques and advanced data analysis methods recently enabled the
characterization of thousands of circular RNA isoforms (circRNAs) from a number of tissues …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after …

The extracellular matrix ( ECM ) is a key regulator of tissue morphogenesis and repair.
However, its composition and architecture are not well characterized. Here, we monitor …