Brazilians are highly admixed with ancestry from Europe, Africa, America, and Asia and yet
still underrepresented in genomic databanks. We hereby present a collection of exomic …

Hereditary fructose intolerance (HFI) is a rare autosomal recessive inherited disorder that
occurs due to the mutation of enzyme aldolase B located on chromosome 9q22. 3. A …

We estimated the genome-wide contribution of recessive coding variation in 6040 families
from the Deciphering Developmental Disorders study. The proportion of cases attributable to …

A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic
de novo variants. Epidemiological disease estimates are not available for the vast majority of …

Following dietary exposure to fructose, sucrose, or sorbitol, untreated hereditary fructose
intolerance (HFI) is characterized by metabolic disturbances (hypoglycemia, lactic acidemia …

Background Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease
caused by deleterious ADA2 variants. The frequency of these variants in the general …

Purpose Limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous
category of autosomal inherited muscle diseases. Many genes causing LGMD have been …

Background Cystic fibrosis (CF) is a common, life-threatening genetic disease in
Caucasians but rarely reported in Chinese population. The prevalence and population …

Machine learning models are often trained to predict the outcome resulting from a human
decision. For example, if a doctor decides to test a patient for disease, will the patient test …

Background Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease
characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene …