Whole-genome sequencing (WGS) has shown promise in becoming a first-tier diagnostic
test for patients with rare genetic disorders; however, standards addressing the definition …

Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …

Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …

Background We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …

Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond …

Whole-exome sequencing is an attractive alternative to microarray analysis because of the
low cost and potential ability to detect copy number variations (CNV) of various sizes (from 1 …

To the Editor—An increasing number of precision medicine initiatives have been launched
worldwide, with Genomics England as the pioneering flagship project 1. Although some …

Whole genome sequencing (WGS) has the potential to be a comprehensive genetic test,
especially relevant for individuals with neurodevelopmental disorders, syndromes and …

Purpose Individuals with intellectual disability (ID) and/or neurodevelopment disorders
(NDDs) are currently investigated with several different approaches in clinical genetic …

Most consensus recommendations for the genetic diagnosis of neurodevelopmental
disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still …