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 …

Abstract DECIPHER (https://www. deciphergenomics. org) is a free web platform for sharing
anonymized phenotype‐linked variant data from rare disease patients. Its dynamic …

Whole-Exome Sequencing (WES) has proven valuable in the characterization of underlying
genetic defects in most rare diseases (RDs). Copy Number Variants (CNVs) were initially …

Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for
cytogenetics and molecular testing.“Structural anomalies” include non-transient anatomic …

Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic
causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation …

The introduction of Next Generation Sequencing (NGS) technologies has exerted a
significant impact on prenatal diagnosis. Prenatal Exome Sequencing (pES) is performed …

Background Clinical exome sequencing (CES) provides a comprehensive and effective
analysis of relevant disease-associated genes in a cost-effective manner compared to whole …

Over the past 30 years (the timespan of a generation), advances in genomics technologies
have revealed tremendous and unexpected variation in the human genome and have …

Rare neurogenetic disorders are collectively common, affecting 3% of the population, and
often manifest with complex multiorgan comorbidity. With advances in genetic,-omics, and …

Next-generation sequencing (NGS) has altered clinical genetic testing by widening the
access to molecular diagnosis of genetically determined rare diseases. However, physicians …