To further our understanding of the complexity and genetic heterogeneity of rare diseases, it
has become essential to shed light on how combinations of variants in different genes are …

DIDA (DIgenic diseases DAtabase) is a novel database that provides for the first time
detailed information on genes and associated genetic variants involved in digenic diseases …

An important fraction of patients with rare disorders remains with no clear genetic diagnostic,
even after whole-exome or whole-genome sequencing, posing a difficulty in giving …

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

Rare diseases affect millions of people worldwide, and discovering their genetic causes is
challenging. More than half of the individuals analyzed by the Undiagnosed Diseases …

Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases.
By contrast with the thousands of reports that mutations in single genes cause human …

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 …

Genome-wide association studies have uncovered hundreds of common genetic variants
involved in complex diseases. However, for most complex diseases, these common genetic …

Background With the expanding use of next-gen sequencing (NGS) to diagnose the
thousands of rare Mendelian genetic diseases, it is critical to be able to interpret individual …

Spontaneously arising (de novo) genetic variants are important in human disease, yet every
individual carries many such variants, with a median of 1 de novo variant affecting the …