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 …

Inherited bleeding and platelet disorders (BPD) are highly heterogeneous and their
diagnosis involves a combination of clinical investigations, laboratory tests, and genetic …

Background The prediction of potentially pathogenic variant combinations in patients
remains a key task in the field of medical genetics for the understanding and detection of …

Rare diseases impact the lives of 300 million people in the world. Rapid advances in
bioinformatics and genomic technologies have enabled the discovery of causes of 20–30 …

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 …

In the past decade, the high throughput and low cost of sequencing/genotyping approaches
have led to the accumulation of a large amount of data from genome-wide association …

Motivation Whole exome sequencing (WES) has emerged as a powerful tool for genetic
research, enabling the collection of a tremendous amount of data about human genetic …

Background In recent years a large volume of clinical genomics data has become available
due to rapid advances in sequencing technologies. Efficient exploitation of this genomics …

Our understanding of rare disease genetics has been shaped by a monogenic disease
model. While the traditional monogenic disease model has been successful in identifying …

Background The etiology of premature ovarian insufficiency, that is, the loss of ovarian
activity before 40 years of age, is complex. Studies suggest that genetic factors are involved …