chromosomal microarray
Genomic Approaches Boost Rare Disease Diagnoses in Middle Eastern Patient Population
Findings from 1,000 rare disease cases assessed at Al Jalila Children's Specialty Hospital in Dubai highlight the importance of access to genomics-based diagnostic approaches.
Scientists from the University of Florence in Italy applied nanopore sequencing to effectively detect known copy number variants in a small cohort of patients.
The package comprises a battery of genetic tests to detect an array of developmental delays, intellectual disabilities, and autism spectrum disorders.
EHR-Based Model Predicts Patients Who May Benefit from Genetic Testing for Rare Disease
Researchers from Vanderbilt University Medical Center said their approach could systematize who undergoes testing and shorten diagnostic odysseys.
CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients
Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.