Rare diseases occur in a smaller proportion of the general population, which is variedly
defined as less than 200 000 individuals (US) or in less than 1 in 2000 individuals (Europe) …

VarFish is a user-friendly web application for the quality control, filtering, prioritization,
analysis, and user-based annotation of DNA variant data with a focus on rare disease …

Background Variant interpretation is essential for identifying patients' disease-causing
genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact …

Next-generation DNA and RNA sequencing has revolutionized biology and medicine. With
sequencing costs continuously dropping and our ability to generate large datasets rising …

Haemoglobinopathies are common monogenic disorders with diverse clinical
manifestations, partly attributed to the influence of modifier genes. Recent years have seen …

Improving the accuracy of variant interpretation during diagnostic sequencing is a major
goal for genomic medicine. To explore an often‐overlooked splicing effect of missense …

Next-generation sequencing (NGS) technologies generate thousands to millions of genetic
variants per sample. Identification of potential disease-causal variants is labor intensive as it …

Background Alzheimer's disease (AD) is complicated by multiple environmental and
polygenetic factors. The accuracy of artificial neural networks (ANNs) incorporating the …

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder. Around
490 mutations in ITGA2B and ITGB3 genes were reported. We aimed to use targeted next …

Abstract Purpose In Mendelian disease diagnosis, variant analysis is a repetitive, error-
prone, and time consuming process. To address this, we have developed the Mendelian …