ACE Augmentation Achieves High-Sensitivity for Clinical Applications Heather Wetzel, MS, LCGC discusses the recent publication in Genome Medicine entitled "Achieving high-sensitivity for clinical applications using augmented exome sequencing". Heather will review the results from this first ever comparison of an augmented exome sequencing approach (ACE Clinical Exome) to other standard exomes and whole [...]
AMP Webinar: Achieving High Diagnostic Yield for Clinically Relevant Genes Heather Wetzel, MS, LCGC discusses the recent publication in Genome Medicine entitled "Achieving highsensitivity for clinical applications using augmented exome sequencing". Heather discusses the results from this first ever comparison of an augmented exome sequencing approach (ACE Clinical Exome) to other standard exomes [...]
In the testing of disorders that exhibit a high degree of genetic heterogeneity, the clinician is faced with a dilemma: whether to order a gene panel test, or to order exome sequencing?
Identifying the genetic etiology for retinal disorders, like many other Mendelian disorders, is challenging because of allelic, phenotypic, and locus heterogeneity, as well as environmental toxicities resulting in phenocopies.
2014 AMP: The ACE Clinical Exome: An Augmented Exome Providing Accurate Structural Variant Detection
Whole-Exome Sequencing (WES) has become a valuable tool in identifying common and rare disease-causing variants due to its broad coverage and high-resolution.
2014 ACMG: User-Friendly Genomic Results: Leveraging a Novel Approach that has the Potential to Decrease Turn-Around Time and Preserve Opportunities for Novel Discoveries
The identification of causal variants in exome testing continues to rely on appropriate filtering of the tens of thousands of variants identified in an affected individual. Protocols typically apply hard filters to exclude variants least likely to be disease-causing.
Retinal disorders are often Mendelian in nature, being caused by mutation of a single gene in a given individual.
2014 ACMG: Exome Sequencing in 20 Probands with Developmental Eye Defects Identifies Causative Mutations in Five Cases and Demonstrates Genetic Heterogeneity
Anophthalmia (absent eyes)/microphthalmia (small eyes) (A/M) is found in 3 per 10,000 live births and is a clinically heterogeneous birth defect for which the gene@c e@ology remains incompletely understood.
Exome sequencing is increasingly utilized in clinical genetics practice to diagnose cases where other genetic testing has proven futile or cost-inefficient.
Moyamoya Disease (MMD) is a rare cerebrovascular disease typically displaying a dominant low-penetrance mode of inheritance.