Expanded accessibility of genetic sequencing technologies, such as chromosomal
microarray and massively parallel sequencing approaches, is changing the management of …

Eosinophilic esophagitis (EoE) is a chronic allergic disease associated with marked
mucosal eosinophil accumulation. Multiple studies have reported a strong familial …

Aim To perform a systematic review on the use of Artificial Intelligence (AI) techniques for
predicting COVID-19 hospitalization and mortality using primary and secondary data …

Intestinal-type sinonasal adenocarcinoma (ITAC) is a rare tumor carrying poor prognosis
and needing new treatment options. The aim of this study was to identify actionable gene …

Diagnosis of inherited bleeding disorders (IBDs) remains challenging, especially in the case
of inherited platelet disorders, due to the heterogeneity of the clinical and laboratory …

Dynamic studies in time course experimental designs and clinical approaches have been
widely used by the biomedical community. These applications are particularly relevant in …

Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole
exome sequencing (WES) data, highlighting the need for improved variant filtering and …

Purpose Automated variant filtering is an essential part of diagnostic genome-wide
sequencing but may generate false negative results. We sought to investigate whether some …

Predominantly antibody deficiency (PAD) is the most prevalent form of primary
immunodeficiency, and is characterized by broad clinical, immunological and genetic …

Background The diagnostic journey for many rare disease patients remains challenging
despite use of latest genetic technological advancements. We hypothesize that some …