FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2914476644> ?p ?o ?g. }

• W2914476644 endingPage "e1007858" @default.
• W2914476644 startingPage "e1007858" @default.
• W2914476644 abstract "Complex chromosomal rearrangements (CCRs) are rearrangements involving more than two chromosomes or more than two breakpoints. Whole genome sequencing (WGS) allows for outstanding high resolution characterization on the nucleotide level in unique sequences of such rearrangements, but problems remain for mapping breakpoints in repetitive regions of the genome, which are known to be prone to rearrangements. Hence, multiple complementary WGS experiments are sometimes needed to solve the structures of CCRs. We have studied three individuals with CCRs: Case 1 and Case 2 presented with de novo karyotypically balanced, complex interchromosomal rearrangements (46,XX,t(2;8;15)(q35;q24.1;q22) and 46,XY,t(1;10;5)(q32;p12;q31)), and Case 3 presented with a de novo, extremely complex intrachromosomal rearrangement on chromosome 1. Molecular cytogenetic investigation revealed cryptic deletions in the breakpoints of chromosome 2 and 8 in Case 1, and on chromosome 10 in Case 2, explaining their clinical symptoms. In Case 3, 26 breakpoints were identified using WGS, disrupting five known disease genes. All rearrangements were subsequently analyzed using optical maps, linked-read WGS, and short-read WGS. In conclusion, we present a case series of three unique de novo CCRs where we by combining the results from the different technologies fully solved the structure of each rearrangement. The power in combining short-read WGS with long-molecule sequencing or optical mapping in these unique de novo CCRs in a clinical setting is demonstrated." @default.
• W2914476644 created "2019-02-21" @default.
• W2914476644 creator A5000356436 @default.
• W2914476644 creator A5006807738 @default.
• W2914476644 creator A5010937108 @default.
• W2914476644 creator A5016897570 @default.
• W2914476644 creator A5021321610 @default.
• W2914476644 creator A5038489096 @default.
• W2914476644 creator A5057724509 @default.
• W2914476644 creator A5082800617 @default.
• W2914476644 creator A5083240572 @default.
• W2914476644 creator A5087746079 @default.
• W2914476644 date "2019-02-08" @default.
• W2914476644 modified "2023-10-16" @default.
• W2914476644 title "Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements" @default.
• W2914476644 cites W1980099549 @default.
• W2914476644 cites W1988711210 @default.
• W2914476644 cites W1992914297 @default.
• W2914476644 cites W1994446029 @default.
• W2914476644 cites W2018706788 @default.
• W2914476644 cites W2021341670 @default.
• W2914476644 cites W2021714239 @default.
• W2914476644 cites W2089460483 @default.
• W2914476644 cites W2099691499 @default.
• W2914476644 cites W2100342395 @default.
• W2914476644 cites W2104549677 @default.
• W2914476644 cites W2104570606 @default.
• W2914476644 cites W2109948920 @default.
• W2914476644 cites W2124651100 @default.
• W2914476644 cites W2125204927 @default.
• W2914476644 cites W2125419309 @default.
• W2914476644 cites W2136145671 @default.
• W2914476644 cites W2147429782 @default.
• W2914476644 cites W2150194381 @default.
• W2914476644 cites W2150506261 @default.
• W2914476644 cites W2166657289 @default.
• W2914476644 cites W2204509266 @default.
• W2914476644 cites W2553371670 @default.
• W2914476644 cites W2589834155 @default.
• W2914476644 cites W2613764233 @default.
• W2914476644 cites W2617764725 @default.
• W2914476644 cites W2625514234 @default.
• W2914476644 cites W2748878638 @default.
• W2914476644 cites W2763349482 @default.
• W2914476644 cites W2791184777 @default.
• W2914476644 cites W2949059287 @default.
• W2914476644 cites W2949860250 @default.
• W2914476644 cites W2950121474 @default.
• W2914476644 cites W2951149781 @default.
• W2914476644 cites W2952870794 @default.
• W2914476644 cites W4255949184 @default.
• W2914476644 doi "https://doi.org/10.1371/journal.pgen.1007858" @default.
• W2914476644 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6368290" @default.
• W2914476644 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30735495" @default.
• W2914476644 hasPublicationYear "2019" @default.
• W2914476644 type Work @default.
• W2914476644 sameAs 2914476644 @default.
• W2914476644 citedByCount "32" @default.
• W2914476644 countsByYear W29144766442019 @default.
• W2914476644 countsByYear W29144766442020 @default.
• W2914476644 countsByYear W29144766442021 @default.
• W2914476644 countsByYear W29144766442022 @default.
• W2914476644 countsByYear W29144766442023 @default.
• W2914476644 crossrefType "journal-article" @default.
• W2914476644 hasAuthorship W2914476644A5000356436 @default.
• W2914476644 hasAuthorship W2914476644A5006807738 @default.
• W2914476644 hasAuthorship W2914476644A5010937108 @default.
• W2914476644 hasAuthorship W2914476644A5016897570 @default.
• W2914476644 hasAuthorship W2914476644A5021321610 @default.
• W2914476644 hasAuthorship W2914476644A5038489096 @default.
• W2914476644 hasAuthorship W2914476644A5057724509 @default.
• W2914476644 hasAuthorship W2914476644A5082800617 @default.
• W2914476644 hasAuthorship W2914476644A5083240572 @default.
• W2914476644 hasAuthorship W2914476644A5087746079 @default.
• W2914476644 hasBestOaLocation W29144766441 @default.
• W2914476644 hasConcept C104317684 @default.
• W2914476644 hasConcept C141231307 @default.
• W2914476644 hasConcept C151020129 @default.
• W2914476644 hasConcept C182901222 @default.
• W2914476644 hasConcept C206936463 @default.
• W2914476644 hasConcept C24432333 @default.
• W2914476644 hasConcept C2992511266 @default.
• W2914476644 hasConcept C30481170 @default.
• W2914476644 hasConcept C53226629 @default.
• W2914476644 hasConcept C54355233 @default.
• W2914476644 hasConcept C70721500 @default.
• W2914476644 hasConcept C86546924 @default.
• W2914476644 hasConcept C86803240 @default.
• W2914476644 hasConceptScore W2914476644C104317684 @default.
• W2914476644 hasConceptScore W2914476644C141231307 @default.
• W2914476644 hasConceptScore W2914476644C151020129 @default.
• W2914476644 hasConceptScore W2914476644C182901222 @default.
• W2914476644 hasConceptScore W2914476644C206936463 @default.
• W2914476644 hasConceptScore W2914476644C24432333 @default.
• W2914476644 hasConceptScore W2914476644C2992511266 @default.
• W2914476644 hasConceptScore W2914476644C30481170 @default.
• W2914476644 hasConceptScore W2914476644C53226629 @default.
• W2914476644 hasConceptScore W2914476644C54355233 @default.

• next