The subject of rare disease numbers is rife with misconceptions, not just in websites and
other layman's literature, but also in the medical literature. Various websites mention …

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 …

INTRODUCTION A reference atlas of human cell types is a major goal for the field. Here, we
set out to generate single-cell atlases of both gene expression (this study) and chromatin …

INTRODUCTION In recent years, the single-cell genomics field has made incredible
progress toward disentangling the cellular heterogeneity of human tissues. However, the …

Purpose To investigate the impact of rapid-turnaround exome sequencing in critically ill
neonates using phenotype-based subject selection criteria. Methods Intensive care unit …

Importance Understanding the causes of infant mortality shapes public health, surveillance,
and research investments. However, the association of single-locus (mendelian) genetic …

OBJECTIVES: To determine the diagnostic and clinical utility of trio-rapid genome
sequencing in critically ill infants. DESIGN: In this prospective study, samples from critically …

Objective To determine the proportion of infant deaths occurring in the setting of a confirmed
genetic disorder. Study design A retrospective analysis of the electronic medical records of …

Genetic diseases disrupt the functionality of an infant's genome during fetal–neonatal
adaptation and represent a leading cause of neonatal and infant mortality in the United …

Purpose Advances in genomic research have facilitated rare disease diagnosis for
thousands of individuals. Unfortunately, the benefits of advanced genetic diagnostic …