Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …

Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …

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 …

Critically ill infants and children with rare diseases need equitable access to rapid and
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …

Autosomal recessive IRF7 deficiency was previously reported in three patients with single
critical influenza or COVID-19 pneumonia episodes. The patients' fibroblasts and …

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 …

The impact of next-generation sequencing (NGS) cannot be overestimated. The technology
has transformed the field of life science, contributing to a dramatic expansion in our …

Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …

Short tandem repeats (STRs) are abundant and highly mutagenic in the human genome.
Many STR loci have been associated with a range of human genetic disorders. However …

Purpose This study aimed to provide comprehensive diagnostic and candidate analyses in a
pediatric rare disease cohort through the Genomic Answers for Kids program. Methods …