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Curating the Clinical Genome 2024 ePoster Gallery
What’s in the Neighborhood Exploration of Phenotyp ...
What’s in the Neighborhood Exploration of Phenotypes and Genes in Genomic Regions with GeneScout
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GeneScout is a web-based tool that allows users to explore genes and phenotypes within genomic regions by leveraging data from OMIM, NCBI, ClinGen, and more. It can identify dosage-sensitive genes and resulting phenotypes in copy number variants (CNV) and genes associated with recessively-inherited phenotypes within regions of homozygosity. Users can search and compare genomic regions in different assemblies, calculate coefficients of inbreeding and relationship, and filter results by inheritance patterns and clinical features. The tool provides direct links to OMIM gene and phenotype entries, as well as external resources like ClinVar and gnomAD. Additionally, users can identify imprinted regions, compare clinical synopses in OMIM, and filter results to display only genes associated with specific clinical features. GeneScout facilitates the discovery of genes and related phenotypes within genomic regions to study potential functional and phenotypic consequences effectively.
Keywords
GeneScout
web-based tool
genes
phenotypes
genomic regions
OMIM
NCBI
ClinGen
copy number variants
recessively-inherited phenotypes
Carolyn Applegate (cdapplegate@jhmi.edu)
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
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