Matches in SemOpenAlex for { <https://semopenalex.org/work/W4296564583> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W4296564583 abstract "Structural variation in genomes, such as copy number variants (CNVs), is under scrutiny for its contribution to phenotypic expression and evolution. Regions of homozygosity (ROH) are ripe for phenotype-gene discovery. Determining the genes and related phenotypes within genomic regions is key to studying potential functional and phenotypic consequences. Because individuals have multiple CNVs and ROHs in their genome, identifying genomic regions that are phenotypically significant is challenging. GeneScout is a web-based tool that can be used to search genomic regions to display and filter the genes and their associated phenotypes within regions of interest. Phenotypes and their associated gene(s) can then be filtered to show only the genes with phenotypes that have a particular inheritance pattern and/or specific clinical feature(s). Phenotypes can then be selected to compare the clinical synopses side-by-side in Online Mendelian Inheritance in Man (OMIM® ). Additionally, two coordinate sets can be compared to determine either the regions of overlap or the unique regions (subtraction). The resulting coordinate ranges are displayed on the results page, and the results table displays only the genes and phenotypes present within the coordinate ranges. The interactive table includes gene-specific links to external resources such as ClinVar, ClinGen validity, ClinGen dosage, and gnomAD, and a diamond symbol next to the gene name indicates a gene that spans the start or end of a coordinate range. Searches and comparisons may be performed for coordinates in assemblies GRCh37 (hg19) and GRCh38 (hg38). The results page offers the option to liftover coordinates entered in GRCh37 to GRCh38 and updates the results table to display the gene content based on assembly GRCh38. The search coordinates and results table can be downloaded in a tab-delimited or Excel file. © 2022 Wiley Periodicals LLC. Basic Protocol: Searching GeneScout." @default.
- W4296564583 created "2022-09-21" @default.
- W4296564583 creator A5016900860 @default.
- W4296564583 creator A5031611329 @default.
- W4296564583 creator A5039528640 @default.
- W4296564583 creator A5083209186 @default.
- W4296564583 date "2022-09-01" @default.
- W4296564583 modified "2023-10-16" @default.
- W4296564583 title "Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout" @default.
- W4296564583 cites W1984046516 @default.
- W4296564583 cites W2021714239 @default.
- W4296564583 cites W2085755265 @default.
- W4296564583 cites W2131587128 @default.
- W4296564583 cites W2148095347 @default.
- W4296564583 cites W2162151166 @default.
- W4296564583 cites W2173732482 @default.
- W4296564583 cites W2807333133 @default.
- W4296564583 cites W3208459100 @default.
- W4296564583 cites W3209978604 @default.
- W4296564583 doi "https://doi.org/10.1002/cpz1.530" @default.
- W4296564583 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36130039" @default.
- W4296564583 hasPublicationYear "2022" @default.
- W4296564583 type Work @default.
- W4296564583 citedByCount "1" @default.
- W4296564583 countsByYear W42965645832023 @default.
- W4296564583 crossrefType "journal-article" @default.
- W4296564583 hasAuthorship W4296564583A5016900860 @default.
- W4296564583 hasAuthorship W4296564583A5031611329 @default.
- W4296564583 hasAuthorship W4296564583A5039528640 @default.
- W4296564583 hasAuthorship W4296564583A5083209186 @default.
- W4296564583 hasConcept C104317684 @default.
- W4296564583 hasConcept C120821319 @default.
- W4296564583 hasConcept C127716648 @default.
- W4296564583 hasConcept C130073038 @default.
- W4296564583 hasConcept C141231307 @default.
- W4296564583 hasConcept C175783326 @default.
- W4296564583 hasConcept C191791410 @default.
- W4296564583 hasConcept C2780902518 @default.
- W4296564583 hasConcept C54355233 @default.
- W4296564583 hasConcept C70721500 @default.
- W4296564583 hasConcept C86803240 @default.
- W4296564583 hasConceptScore W4296564583C104317684 @default.
- W4296564583 hasConceptScore W4296564583C120821319 @default.
- W4296564583 hasConceptScore W4296564583C127716648 @default.
- W4296564583 hasConceptScore W4296564583C130073038 @default.
- W4296564583 hasConceptScore W4296564583C141231307 @default.
- W4296564583 hasConceptScore W4296564583C175783326 @default.
- W4296564583 hasConceptScore W4296564583C191791410 @default.
- W4296564583 hasConceptScore W4296564583C2780902518 @default.
- W4296564583 hasConceptScore W4296564583C54355233 @default.
- W4296564583 hasConceptScore W4296564583C70721500 @default.
- W4296564583 hasConceptScore W4296564583C86803240 @default.
- W4296564583 hasIssue "9" @default.
- W4296564583 hasLocation W42965645831 @default.
- W4296564583 hasLocation W42965645832 @default.
- W4296564583 hasOpenAccess W4296564583 @default.
- W4296564583 hasPrimaryLocation W42965645831 @default.
- W4296564583 hasRelatedWork W1581494035 @default.
- W4296564583 hasRelatedWork W2033467220 @default.
- W4296564583 hasRelatedWork W2035614223 @default.
- W4296564583 hasRelatedWork W2053767652 @default.
- W4296564583 hasRelatedWork W2057739827 @default.
- W4296564583 hasRelatedWork W2089226567 @default.
- W4296564583 hasRelatedWork W2156830367 @default.
- W4296564583 hasRelatedWork W2408438976 @default.
- W4296564583 hasRelatedWork W4386219807 @default.
- W4296564583 hasRelatedWork W562794435 @default.
- W4296564583 hasVolume "2" @default.
- W4296564583 isParatext "false" @default.
- W4296564583 isRetracted "false" @default.
- W4296564583 workType "article" @default.