Abstract The Human Gene Mutation Database (HGMD®) is a comprehensive collection of
germline mutations in nuclear genes that underlie, or are associated with, human inherited …

Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common
birth defects in all populations worldwide, and have notable population, ethnicity, and …

The Alzheimer disease and frontotemporal dementia (AD&FTLD) and Parkinson disease
(PD) Mutation Databases make available curated information of sequence variations in …

Rare disorders are scarcely represented in international classifications and therefore
invisible in information systems. One of the major needs in health information systems and …

Whole-exome sequencing (WES) represents a significant breakthrough in the field of human
genetics. This technology has largely contributed to the identification of new disease …

The worldwide number of cancer survivors within 5 years of diagnosis was estimated to be
about 28.7 million in 2008 [1]. Many must cope with the long-term effects of treatment, which …

Recent advances in genome analysis have provided important insights into the genetic
architecture of infectious and inflammatory diseases. The combined analysis of loci detected …

Abstract Objective We propose FedScore, a privacy-preserving federated learning
framework for scoring system generation across multiple sites to facilitate cross-institutional …

Genome technologies have defined a complex genetic architecture in major infectious,
inflammatory, and autoimmune disorders. High density marker arrays and Immunochips …

Background As the “omics” revolution unfolds, the growth in data quantity and diversity is
bringing about the need for pioneering bioinformatics software, capable of significantly …