FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2885756245> ?p ?o ?g. }

• W2885756245 endingPage "1659" @default.
• W2885756245 startingPage "1650" @default.
• W2885756245 abstract "Conflict resolution in genomic variant interpretation is a critical step toward improving patient care. Evaluating interpretation discrepancies in copy number variants (CNVs) typically involves assessing overlapping genomic content with focus on genes/regions that may be subject to dosage sensitivity (haploinsufficiency (HI) and/or triplosensitivity (TS)). CNVs containing dosage sensitive genes/regions are generally interpreted as “likely pathogenic” (LP) or “pathogenic” (P), and CNVs involving the same known dosage sensitive gene(s) should receive the same clinical interpretation. We compared the Clinical Genome Resource (ClinGen) Dosage Map, a publicly available resource documenting known HI and TS genes/regions, against germline, clinical CNV interpretations within the ClinVar database. We identified 251 CNVs overlapping known dosage sensitive genes/regions but not classified as LP or P; these were sent back to their original submitting laboratories for re-evaluation. Of 246 CNVs re-evaluated, an updated clinical classification was warranted in 157 cases (63.8%); no change was made to the current classification in 79 cases (32.1%); and 10 cases (4.1%) resulted in other types of updates to ClinVar records. This effort will add curated interpretation data into the public domain and allow laboratories to focus attention on more complex discrepancies." @default.
• W2885756245 created "2018-08-22" @default.
• W2885756245 creator A5000798620 @default.
• W2885756245 creator A5002158684 @default.
• W2885756245 creator A5014353709 @default.
• W2885756245 creator A5016477685 @default.
• W2885756245 creator A5020532646 @default.
• W2885756245 creator A5025346879 @default.
• W2885756245 creator A5025734055 @default.
• W2885756245 creator A5028767331 @default.
• W2885756245 creator A5031234659 @default.
• W2885756245 creator A5034248519 @default.
• W2885756245 creator A5036361995 @default.
• W2885756245 creator A5042193413 @default.
• W2885756245 creator A5048681280 @default.
• W2885756245 creator A5051458603 @default.
• W2885756245 creator A5055328507 @default.
• W2885756245 creator A5060086300 @default.
• W2885756245 creator A5061899608 @default.
• W2885756245 creator A5064177944 @default.
• W2885756245 creator A5065977923 @default.
• W2885756245 creator A5071530636 @default.
• W2885756245 creator A5075773117 @default.
• W2885756245 creator A5076711130 @default.
• W2885756245 creator A5079819587 @default.
• W2885756245 creator A5079874169 @default.
• W2885756245 creator A5080310369 @default.
• W2885756245 creator A5083672799 @default.
• W2885756245 creator A5086968344 @default.
• W2885756245 creator A5088638156 @default.
• W2885756245 date "2018-10-11" @default.
• W2885756245 modified "2023-09-30" @default.
• W2885756245 title "Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar" @default.
• W2885756245 cites W1644197353 @default.
• W2885756245 cites W1907683620 @default.
• W2885756245 cites W1964426200 @default.
• W2885756245 cites W1964512314 @default.
• W2885756245 cites W1991633140 @default.
• W2885756245 cites W2032128145 @default.
• W2885756245 cites W2034197594 @default.
• W2885756245 cites W2037116272 @default.
• W2885756245 cites W2051978340 @default.
• W2885756245 cites W2055068525 @default.
• W2885756245 cites W2062812169 @default.
• W2885756245 cites W2080730738 @default.
• W2885756245 cites W2103012833 @default.
• W2885756245 cites W2106650442 @default.
• W2885756245 cites W2110105653 @default.
• W2885756245 cites W2117810452 @default.
• W2885756245 cites W2118321207 @default.
• W2885756245 cites W2125432692 @default.
• W2885756245 cites W2127857992 @default.
• W2885756245 cites W2131587128 @default.
• W2885756245 cites W2141307855 @default.
• W2885756245 cites W2141704631 @default.
• W2885756245 cites W2151566815 @default.
• W2885756245 cites W2154866190 @default.
• W2885756245 cites W2161641617 @default.
• W2885756245 cites W2162066558 @default.
• W2885756245 cites W2166657289 @default.
• W2885756245 cites W2188836807 @default.
• W2885756245 cites W2256016639 @default.
• W2885756245 cites W2402942859 @default.
• W2885756245 cites W2467348070 @default.
• W2885756245 cites W2473990461 @default.
• W2885756245 cites W2513914028 @default.
• W2885756245 cites W2545239263 @default.
• W2885756245 cites W2595455619 @default.
• W2885756245 cites W2599673771 @default.
• W2885756245 cites W2609350370 @default.
• W2885756245 cites W2620580656 @default.
• W2885756245 doi "https://doi.org/10.1002/humu.23610" @default.
• W2885756245 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7374944" @default.
• W2885756245 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30095202" @default.
• W2885756245 hasPublicationYear "2018" @default.
• W2885756245 type Work @default.
• W2885756245 sameAs 2885756245 @default.
• W2885756245 citedByCount "22" @default.
• W2885756245 countsByYear W28857562452018 @default.
• W2885756245 countsByYear W28857562452019 @default.
• W2885756245 countsByYear W28857562452020 @default.
• W2885756245 countsByYear W28857562452021 @default.
• W2885756245 countsByYear W28857562452022 @default.
• W2885756245 countsByYear W28857562452023 @default.
• W2885756245 crossrefType "journal-article" @default.
• W2885756245 hasAuthorship W2885756245A5000798620 @default.
• W2885756245 hasAuthorship W2885756245A5002158684 @default.
• W2885756245 hasAuthorship W2885756245A5014353709 @default.
• W2885756245 hasAuthorship W2885756245A5016477685 @default.
• W2885756245 hasAuthorship W2885756245A5020532646 @default.
• W2885756245 hasAuthorship W2885756245A5025346879 @default.
• W2885756245 hasAuthorship W2885756245A5025734055 @default.
• W2885756245 hasAuthorship W2885756245A5028767331 @default.
• W2885756245 hasAuthorship W2885756245A5031234659 @default.
• W2885756245 hasAuthorship W2885756245A5034248519 @default.
• W2885756245 hasAuthorship W2885756245A5036361995 @default.
• W2885756245 hasAuthorship W2885756245A5042193413 @default.
• W2885756245 hasAuthorship W2885756245A5048681280 @default.

• next