Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

The success of checkpoint blockade therapy against cancer has unequivocally shown that
cancer cells can be effectively recognized by the immune system and eliminated. However …

Regulation of transcript structure generates transcript diversity and plays an important role in
human disease,,,,,–. The advent of long-read sequencing technologies offers the opportunity …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole
exome sequencing (WES); however, additional diagnostic yields and costs remain …

Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-
described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery …

Pre-messenger RNA splicing is initiated with the recognition of a single-nucleotide intronic
branchpoint (BP) within a BP motif by spliceosome elements. Forty-eight rare variants in 43 …

Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

Background Genetic mutations in beta-glucocerebrosidase (GBA) represent the major
genetic risk factor for Parkinson's disease (PD). GBA participates in both the endo-lysosomal …

With the invention of RNA sequencing over a decade ago, diagnosis and identification of the
gene-related diseases entered a new phase that enabled more accurate analysis of the …