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 …

Genome-wide association studies have identified> 10,000 genetic variants associated with
various phenotypes and diseases. Although the majority are common variants, rare variants …

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 …

Члены Комитета экспертов подтвердили отсутствие финансовой поддержки/конфликта
интересов. В случае сообщения о наличии конфликта интересов, член (ы) Комитета …

Summary The second Newborn Sequencing in Genomic Medicine and Public Health
(NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing …

The second Newborn Sequencing in Genomic Medicine and Public Health study was a
randomized, controlled trial of the effectiveness of rapid whole-genome or-exome …

Newborn screening (NBS) is a population-based program with a goal of reducing the
burden of disease for conditions with significant clinical impact on neonates. Screening tests …

Continuous health monitoring and integrated diagnostic devices, worn on the body and
used in the home, will help to identify and prevent early manifestations of disease. However …

Importance Genomic newborn screening (gNBS) may optimize the health and well-being of
children and families. Screening programs are required to be evidence based, acceptable …

Purpose Newborn screening (NBS) is performed to identify neonates at risk for actionable,
severe, early-onset disorders, many of which are genetic. The BabySeq Project randomized …