FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4205121063> ?p ?o ?g. }

• W4205121063 endingPage "1684" @default.
• W4205121063 startingPage "1677" @default.
• W4205121063 abstract "Abstract Motivation Structural genomic variants account for much of human variability and are involved in several diseases. Structural variants are complex and may affect coding regions of multiple genes, or affect the functions of genomic regions in different ways from single nucleotide variants. Interpreting the phenotypic consequences of structural variants relies on information about gene functions, haploinsufficiency or triplosensitivity and other genomic features. Phenotype-based methods to identifying variants that are involved in genetic diseases combine molecular features with prior knowledge about the phenotypic consequences of altering gene functions. While phenotype-based methods have been applied successfully to single nucleotide variants as well as short insertions and deletions, the complexity of structural variants makes it more challenging to link them to phenotypes. Furthermore, structural variants can affect a large number of coding regions, and phenotype information may not be available for all of them. Results We developed DeepSVP, a computational method to prioritize structural variants involved in genetic diseases by combining genomic and gene functions information. We incorporate phenotypes linked to genes, functions of gene products, gene expression in individual cell types and anatomical sites of expression, and systematically relate them to their phenotypic consequences through ontologies and machine learning. DeepSVP significantly improves the success rate of finding causative variants in several benchmarks and can identify novel pathogenic structural variants in consanguineous families. Availability and implementation https://github.com/bio-ontology-research-group/DeepSVP. Supplementary information Supplementary data are available at Bioinformatics online." @default.
• W4205121063 created "2022-01-26" @default.
• W4205121063 creator A5008804472 @default.
• W4205121063 creator A5009879097 @default.
• W4205121063 creator A5012272482 @default.
• W4205121063 creator A5016213975 @default.
• W4205121063 creator A5038329187 @default.
• W4205121063 creator A5043808311 @default.
• W4205121063 creator A5045629807 @default.
• W4205121063 creator A5049969741 @default.
• W4205121063 creator A5050633226 @default.
• W4205121063 creator A5075841111 @default.
• W4205121063 date "2021-12-24" @default.
• W4205121063 modified "2023-09-29" @default.
• W4205121063 title "DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning" @default.
• W4205121063 cites W1533942137 @default.
• W4205121063 cites W1727815286 @default.
• W4205121063 cites W1912672559 @default.
• W4205121063 cites W2007371217 @default.
• W4205121063 cites W2032247293 @default.
• W4205121063 cites W2036841261 @default.
• W4205121063 cites W2081038787 @default.
• W4205121063 cites W2092926517 @default.
• W4205121063 cites W2096791516 @default.
• W4205121063 cites W2104622981 @default.
• W4205121063 cites W2110374888 @default.
• W4205121063 cites W2116034137 @default.
• W4205121063 cites W2117243134 @default.
• W4205121063 cites W2118477123 @default.
• W4205121063 cites W2150417477 @default.
• W4205121063 cites W2151323473 @default.
• W4205121063 cites W2157079123 @default.
• W4205121063 cites W2159907330 @default.
• W4205121063 cites W2160344363 @default.
• W4205121063 cites W2169567789 @default.
• W4205121063 cites W2246559112 @default.
• W4205121063 cites W2462007197 @default.
• W4205121063 cites W2558643140 @default.
• W4205121063 cites W2563455439 @default.
• W4205121063 cites W2746751314 @default.
• W4205121063 cites W2784218909 @default.
• W4205121063 cites W2789374663 @default.
• W4205121063 cites W2796709271 @default.
• W4205121063 cites W2894687190 @default.
• W4205121063 cites W2900255713 @default.
• W4205121063 cites W2901332105 @default.
• W4205121063 cites W2905517925 @default.
• W4205121063 cites W2950595506 @default.
• W4205121063 cites W2955065634 @default.
• W4205121063 cites W2962969117 @default.
• W4205121063 cites W2983742483 @default.
• W4205121063 cites W2989608901 @default.
• W4205121063 cites W3043427624 @default.
• W4205121063 cites W3091928167 @default.
• W4205121063 cites W3092613928 @default.
• W4205121063 cites W3098485826 @default.
• W4205121063 cites W3136918052 @default.
• W4205121063 cites W3193533319 @default.
• W4205121063 cites W4212919921 @default.
• W4205121063 cites W4213441188 @default.
• W4205121063 cites W4220697516 @default.
• W4205121063 doi "https://doi.org/10.1093/bioinformatics/btab859" @default.
• W4205121063 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34951628" @default.
• W4205121063 hasPublicationYear "2021" @default.
• W4205121063 type Work @default.
• W4205121063 citedByCount "5" @default.
• W4205121063 countsByYear W42051210632022 @default.
• W4205121063 countsByYear W42051210632023 @default.
• W4205121063 crossrefType "journal-article" @default.
• W4205121063 hasAuthorship W4205121063A5008804472 @default.
• W4205121063 hasAuthorship W4205121063A5009879097 @default.
• W4205121063 hasAuthorship W4205121063A5012272482 @default.
• W4205121063 hasAuthorship W4205121063A5016213975 @default.
• W4205121063 hasAuthorship W4205121063A5038329187 @default.
• W4205121063 hasAuthorship W4205121063A5043808311 @default.
• W4205121063 hasAuthorship W4205121063A5045629807 @default.
• W4205121063 hasAuthorship W4205121063A5049969741 @default.
• W4205121063 hasAuthorship W4205121063A5050633226 @default.
• W4205121063 hasAuthorship W4205121063A5075841111 @default.
• W4205121063 hasBestOaLocation W42051210631 @default.
• W4205121063 hasConcept C104317684 @default.
• W4205121063 hasConcept C127716648 @default.
• W4205121063 hasConcept C200844832 @default.
• W4205121063 hasConcept C54355233 @default.
• W4205121063 hasConcept C68838962 @default.
• W4205121063 hasConcept C70721500 @default.
• W4205121063 hasConcept C86803240 @default.
• W4205121063 hasConceptScore W4205121063C104317684 @default.
• W4205121063 hasConceptScore W4205121063C127716648 @default.
• W4205121063 hasConceptScore W4205121063C200844832 @default.
• W4205121063 hasConceptScore W4205121063C54355233 @default.
• W4205121063 hasConceptScore W4205121063C68838962 @default.
• W4205121063 hasConceptScore W4205121063C70721500 @default.
• W4205121063 hasConceptScore W4205121063C86803240 @default.
• W4205121063 hasIssue "6" @default.
• W4205121063 hasLocation W42051210631 @default.
• W4205121063 hasLocation W42051210632 @default.
• W4205121063 hasLocation W42051210633 @default.

• next