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 …

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 …

Effective computer-aided or automated variant evaluations for monogenic diseases will
expedite clinical diagnostic and research efforts of known and novel disease-causing genes …

Bridging the gap between genetic variations, environmental determinants, and phenotypic
outcomes is critical for supporting clinical diagnosis and understanding mechanisms of …

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 …

Background Clinical interpretation of genetic variants in the context of the patient's
phenotype is becoming the largest component of cost and time expenditure for genome …

It's challenging work to identify disease-causing genes from the next-generation sequencing
(NGS) data of patients with Mendelian disorders. To improve this situation, researchers have …

A molecular diagnosis from the analysis of sequencing data in rare Mendelian diseases has
a huge impact on the management of patients and their families. Numerous patient …

Single locus (Mendelian) diseases are a leading cause of childhood hospitalization,
intensive care unit (ICU) admission, mortality, and healthcare cost. Rapid genome …

The advent of Whole Genome Sequencing (WGS) broadened the genetic variation detection
range, revealing the presence of variants even in non-coding regions of the genome, which …