Genome sequencing may offer diagnostic utility beyond exome sequencing at acceptable cost
1. In this cohort study of families with suspected Mendelian disorders for whom preliminary genetic testing had not revealed a ...
Tag: exome sequencing
Genome-wide analysis aids in diagnosing rare pediatric diseases
1. In this cohort study, a combination of exome sequencing, microarray analysis, and phenotypic data improved the detection of rare ...
Clinical exome sequencing of stillbirths provides insight into critical genes for fetal survival
1. In this retrospective case-control series, 8.5% of cases received a probable molecular diagnosis based on clinical exome sequencing 2. ...
Exome sequencing yields genetic diagnoses among patients with chronic kidney disease
1. Proband exome sequencing revealed that approximately 10% of patients in this study cohort had a detectable genetic variant of ...