Matches in SemOpenAlex for { <https://semopenalex.org/work/W2998795875> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2998795875 abstract "Abstract High-frequency disease-causing alleles exist, but their number is rather small. This study aimed to interpret and reclassify common pathogenic (P) and likely pathogenic (LP) variants in ClinVar and to identify indicators linked with reclassification. We analyzed P/LP variants without conflicting interpretations in ClinVar. Only variants with an allele frequency exceeding 0.5% in at least one ancestry in gnomAD were included. Variants were manually interpreted according to the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Of 326 variants retrieved, 217 variants in 173 genes were selected for curation. Overall, 87 (40%) variants were downgraded to benign, likely benign or variant of uncertain significance. Five variants (2%) were found to be more likely to be risk factors. Most of the reclassifications were of variants with a low rank, an older classification, a higher allele frequency, or which were collected through methods other than clinical testing. ClinVar provides a universal platform for users who intend to share the classification variants, resulting in the improved concordance of variant interpretation. P/LP variants with a high allele frequency should be used with caution. Ongoing improvements would further improve the practicability of ClinVar database." @default.
- W2998795875 created "2020-01-23" @default.
- W2998795875 creator A5004509724 @default.
- W2998795875 creator A5037756555 @default.
- W2998795875 creator A5041759540 @default.
- W2998795875 creator A5063168393 @default.
- W2998795875 creator A5070975876 @default.
- W2998795875 creator A5073108908 @default.
- W2998795875 creator A5073212256 @default.
- W2998795875 creator A5091442724 @default.
- W2998795875 date "2020-01-15" @default.
- W2998795875 modified "2023-09-30" @default.
- W2998795875 title "Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades" @default.
- W2998795875 cites W1485388354 @default.
- W2998795875 cites W1525426495 @default.
- W2998795875 cites W1644197353 @default.
- W2998795875 cites W1985217863 @default.
- W2998795875 cites W2047441116 @default.
- W2998795875 cites W2049007654 @default.
- W2998795875 cites W2051978340 @default.
- W2998795875 cites W2133647874 @default.
- W2998795875 cites W2256016639 @default.
- W2998795875 cites W2288518720 @default.
- W2998795875 cites W2620580656 @default.
- W2998795875 cites W2770026599 @default.
- W2998795875 cites W2794241037 @default.
- W2998795875 cites W2892127870 @default.
- W2998795875 cites W2896219621 @default.
- W2998795875 cites W2896396057 @default.
- W2998795875 cites W2911570453 @default.
- W2998795875 cites W2949945261 @default.
- W2998795875 cites W2951270827 @default.
- W2998795875 cites W2951843383 @default.
- W2998795875 cites W2952445740 @default.
- W2998795875 doi "https://doi.org/10.1038/s41598-019-57335-5" @default.
- W2998795875 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6962394" @default.
- W2998795875 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31942019" @default.
- W2998795875 hasPublicationYear "2020" @default.
- W2998795875 type Work @default.
- W2998795875 sameAs 2998795875 @default.
- W2998795875 citedByCount "29" @default.
- W2998795875 countsByYear W29987958752020 @default.
- W2998795875 countsByYear W29987958752021 @default.
- W2998795875 countsByYear W29987958752022 @default.
- W2998795875 countsByYear W29987958752023 @default.
- W2998795875 crossrefType "journal-article" @default.
- W2998795875 hasAuthorship W2998795875A5004509724 @default.
- W2998795875 hasAuthorship W2998795875A5037756555 @default.
- W2998795875 hasAuthorship W2998795875A5041759540 @default.
- W2998795875 hasAuthorship W2998795875A5063168393 @default.
- W2998795875 hasAuthorship W2998795875A5070975876 @default.
- W2998795875 hasAuthorship W2998795875A5073108908 @default.
- W2998795875 hasAuthorship W2998795875A5073212256 @default.
- W2998795875 hasAuthorship W2998795875A5091442724 @default.
- W2998795875 hasBestOaLocation W29987958751 @default.
- W2998795875 hasConcept C104317684 @default.
- W2998795875 hasConcept C135763542 @default.
- W2998795875 hasConcept C157410074 @default.
- W2998795875 hasConcept C160798450 @default.
- W2998795875 hasConcept C180754005 @default.
- W2998795875 hasConcept C37463918 @default.
- W2998795875 hasConcept C54355233 @default.
- W2998795875 hasConcept C60644358 @default.
- W2998795875 hasConcept C64474127 @default.
- W2998795875 hasConcept C71924100 @default.
- W2998795875 hasConcept C86803240 @default.
- W2998795875 hasConceptScore W2998795875C104317684 @default.
- W2998795875 hasConceptScore W2998795875C135763542 @default.
- W2998795875 hasConceptScore W2998795875C157410074 @default.
- W2998795875 hasConceptScore W2998795875C160798450 @default.
- W2998795875 hasConceptScore W2998795875C180754005 @default.
- W2998795875 hasConceptScore W2998795875C37463918 @default.
- W2998795875 hasConceptScore W2998795875C54355233 @default.
- W2998795875 hasConceptScore W2998795875C60644358 @default.
- W2998795875 hasConceptScore W2998795875C64474127 @default.
- W2998795875 hasConceptScore W2998795875C71924100 @default.
- W2998795875 hasConceptScore W2998795875C86803240 @default.
- W2998795875 hasIssue "1" @default.
- W2998795875 hasLocation W29987958751 @default.
- W2998795875 hasLocation W29987958752 @default.
- W2998795875 hasLocation W29987958753 @default.
- W2998795875 hasOpenAccess W2998795875 @default.
- W2998795875 hasPrimaryLocation W29987958751 @default.
- W2998795875 hasRelatedWork W2021855300 @default.
- W2998795875 hasRelatedWork W2057739827 @default.
- W2998795875 hasRelatedWork W2161808406 @default.
- W2998795875 hasRelatedWork W2223919059 @default.
- W2998795875 hasRelatedWork W2386446805 @default.
- W2998795875 hasRelatedWork W2531028986 @default.
- W2998795875 hasRelatedWork W2789624456 @default.
- W2998795875 hasRelatedWork W2883538728 @default.
- W2998795875 hasRelatedWork W2998795875 @default.
- W2998795875 hasRelatedWork W3206047998 @default.
- W2998795875 hasVolume "10" @default.
- W2998795875 isParatext "false" @default.
- W2998795875 isRetracted "false" @default.
- W2998795875 magId "2998795875" @default.
- W2998795875 workType "article" @default.