Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

RNA stability and quality control are integral parts of gene expression regulation. A key
factor sha** eukaryotic transcriptomes, mainly via 3′–5′ exoribonucleolytic trimming or …

Ataxia-telangiectasia or AT is a fatal progressive neurological disease of children. The
symptoms indicate disruptions in the development of such diverse body parts as cerebellum …

Background Congenital hypopituitarism (CH) and its associated syndromes, septo-optic
dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant …

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in
reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4 …

Genome-wide sequencing (GWS) is a standard of care for diagnosis of suspected genetic
disorders, but the proportion of patients found to have pathogenic or likely pathogenic …

Background Genomics enables individualized diagnosis and treatment, but large
challenges remain to functionally interpret rare variants. To date, only one causative variant …

Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the
adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients …

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits
in social communication, restricted interests, and repetitive behaviors. Despite considerable …

Translational Bioinformatics (TBI) is defined as the union of translational medicine and
bioinformatics. It emerges as a major advance in science and technology by covering …