Motivation Whole-exome sequencing (WES) is now being used in clinical practice for the
diagnosis of the causal genes of Mendelian diseases. In order to make the diagnosis …

Background The prediction of human gene–abnormal phenotype associations is a
fundamental step toward the discovery of novel genes associated with human disorders …

The sustained generation of genomic data in the last decade has increased the knowledge
on the causal mutations of a large number of diseases, especially for highly penetrant …

Background Infantile hypercalcaemia (IH) is a vitamin D3 metabolism disorder. The
molecular basis for IH is biallelic mutations in the CYP24A1 or SLC34A1 gene. These …

The causes of a disease and its therapies are not only related to genotypes, but also
associated with other factors, including phenotypes, environmental exposures, drugs and …

Background Recently, measuring phenotype similarity began to play an important role in
disease diagnosis. Researchers have begun to pay attention to develop phenotype …

The rapidly decreasing cost of gene sequencing has resulted in a deluge of genomic data
from across the tree of life; however, outside a few model organism databases, genomic …

Background GenIO is a novel web-server, designed to assist clinical genomics researchers
and medical doctors in the diagnostic process of rare genetic diseases. The tool identifies …

Phenotyping based on the analysis of photographic images is refining the categorization of
rare genetic disorders. 1 Through the development of facial recognition technology …

Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome that involves an
osteopetrosis‐like sclerosis of the long bones and fibrous dysplasia–like cemento‐osseous …