Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Despite advances in high-throughput sequencing that have revolutionized the discovery of
gene defects in rare Mendelian diseases, there are still gaps in translating individual …

Abstract InterPro (http://www. ebi. ac. uk/interpro/) is a freely available database used to
classify protein sequences into families and to predict the presence of important domains …

Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

There are approximately 800 annotated G protein–coupled receptor (GPCR) genes, making
these membrane receptors members of the most abundant gene family in the human …

Patient genomes are interpretable only in the context of other genomes; however, genome
sharing enables discrimination. Thousands of monogenic diseases have yielded definitive …

Common variable immunodeficiency (CVID) is the most frequent symptomatic primary
immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor …

Notwithstanding important advances in the context of single-variant pathogenicity
identification, novel breakthroughs in discerning the origins of many rare diseases require …

Some rare genetic disorders, such as retinitis pigmentosa or Alport syndrome, are caused by
the co-inheritance of DNA variants at two different genetic loci (digenic inheritance). To …

Digenic inheritance (DI) concerns pathologies with the simplest form of multigenic etiology,
implicating more than 1 gene (and perhaps the environment). True DI is when biallelic or …