A5067186218- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Congenital heart defects research
University of Iowa Hospitals and Clinics
2022
The phenotypic spectrum of human microdeletion and microduplication syndromes (MMS) is heterogeneous but often involves intellectual disability, autism disorders, dysmorphic features and/or multiple congenital anomalies. While the common recurrent copy number variants (CNVs) which underlie these MMS have been well-studied, expansion clinical genomic testing has led to identification many rare non-recurrent MMS. To date, hundreds unique reported in medical literature, no single resource...
Abstract The interpretation of clinical chromosomal microarrays (CMAs) has historically relied on the relevance identified copy number variants (CNVs) to phenotype. New guidelines are focused standardizing pathogenicity classifications based genomic location, gene content, and previous publications, rather than immediate relevance. Here we report DISCRIMINATOR, which was developed assign provisional location by integrating information putative benign pathogenic loci in human genome. However,...
Abstract While copy number variants (CNVs) have been identified as an important cause of rare genetic disorders, they also in unaffected control populations, making clinical interpretation these lesions challenging. Discriminating benign CNVs from those pathogenic for therefore, relies on understanding what regions the human genome are tolerant to variation. Benign-Ex is a python-based program that uses information databases generate one or more interval map(s) and then identifies optimal...