Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …

Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations …

Big data in health care is a fast-growing field and a new paradigm that is transforming case-
based studies to large-scale, data-driven research. As big data is dependent on the …

For over a decade the term “Big data” has been used to describe the rapid increase in
volume, variety and velocity of information available, not just in medical research but in …

A fundamental problem in rare-disease diagnostics is the lack of consensus as to which
genes have sufficient evidence to attribute causation. To address this issue, we have …

Objectives We conducted a systematic review and meta‐analysis to determine the
diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural …

Intrinsically disordered regions (IDRs) represent a large percentage of overall nuclear
protein content. The prevailing dogma is that IDRs engage in non-specific interactions …

Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …