FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2798328801> ?p ?o ?g. }

• W2798328801 abstract "ABSTRACT Clinical genomic tests increasingly utilize a next generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In hereditary cancer screening, failure to correct such errors could have serious consequences for patients, who may follow an unwarranted screening or surgical-management path. It has been suggested that routine orthogonal confirmation via Sanger sequencing is required to verify NGS results, especially low-confidence positives with depressed allele fraction (<30% of alternate allele). We evaluated whether an alternative method of confirmation—software-assisted manual call review—performed comparably to Sanger confirmation in >15,000 samples. Licensed reviewers manually inspected both raw and processed data at the batch-, sample-, and variant-level, including raw NGS read pileups. Of ambiguous variant calls with <30% allele fraction (1,707 total calls at 38 unique sites), manual call review classified >99% (1,701) as true positives (enriched for long insertions or deletions (“indels”) and homopolymers) or true negatives (often conspicuous NGS artifacts), with the remaining <1% (6) being mosaic. Critically, results from software-assisted manual review and retrospective Sanger sequencing were concordant for samples selected from all ambiguous sites. We conclude that the confirmation required for high confidence in NGS-based germline testing can manifest in different ways: a trained NGS expert operating platform-tailored review software achieves quality comparable to routine Sanger confirmation." @default.
• W2798328801 created "2018-05-07" @default.
• W2798328801 creator A5004907981 @default.
• W2798328801 creator A5020616571 @default.
• W2798328801 creator A5024276663 @default.
• W2798328801 creator A5034794364 @default.
• W2798328801 creator A5051454450 @default.
• W2798328801 creator A5063909998 @default.
• W2798328801 creator A5069806434 @default.
• W2798328801 creator A5087471854 @default.
• W2798328801 creator A5091909433 @default.
• W2798328801 date "2018-04-22" @default.
• W2798328801 modified "2023-09-26" @default.
• W2798328801 title "Software-assisted manual review of clinical NGS data: an alternative to routine Sanger sequencing confirmation with equivalent results in >15,000 hereditary cancer screens" @default.
• W2798328801 cites W1496613889 @default.
• W2798328801 cites W1545501013 @default.
• W2798328801 cites W1871202334 @default.
• W2798328801 cites W1965919119 @default.
• W2798328801 cites W2039716761 @default.
• W2798328801 cites W2057152418 @default.
• W2798328801 cites W2095787833 @default.
• W2798328801 cites W2096504879 @default.
• W2798328801 cites W2098746581 @default.
• W2798328801 cites W2106578986 @default.
• W2798328801 cites W2116759897 @default.
• W2798328801 cites W2119180969 @default.
• W2798328801 cites W2122732537 @default.
• W2798328801 cites W2138270253 @default.
• W2798328801 cites W2142403957 @default.
• W2798328801 cites W2153966196 @default.
• W2798328801 cites W2154866190 @default.
• W2798328801 cites W2171777347 @default.
• W2798328801 cites W2299670551 @default.
• W2798328801 cites W2325363292 @default.
• W2798328801 cites W2529122589 @default.
• W2798328801 cites W2585769337 @default.
• W2798328801 cites W2600416853 @default.
• W2798328801 cites W2790143152 @default.
• W2798328801 cites W2799585335 @default.
• W2798328801 cites W2952777088 @default.
• W2798328801 cites W4236190976 @default.
• W2798328801 doi "https://doi.org/10.1101/305011" @default.
• W2798328801 hasPublicationYear "2018" @default.
• W2798328801 type Work @default.
• W2798328801 sameAs 2798328801 @default.
• W2798328801 citedByCount "1" @default.
• W2798328801 countsByYear W27983288012019 @default.
• W2798328801 crossrefType "posted-content" @default.
• W2798328801 hasAuthorship W2798328801A5004907981 @default.
• W2798328801 hasAuthorship W2798328801A5020616571 @default.
• W2798328801 hasAuthorship W2798328801A5024276663 @default.
• W2798328801 hasAuthorship W2798328801A5034794364 @default.
• W2798328801 hasAuthorship W2798328801A5051454450 @default.
• W2798328801 hasAuthorship W2798328801A5063909998 @default.
• W2798328801 hasAuthorship W2798328801A5069806434 @default.
• W2798328801 hasAuthorship W2798328801A5087471854 @default.
• W2798328801 hasAuthorship W2798328801A5091909433 @default.
• W2798328801 hasBestOaLocation W27983288011 @default.
• W2798328801 hasConcept C104317684 @default.
• W2798328801 hasConcept C119054055 @default.
• W2798328801 hasConcept C119857082 @default.
• W2798328801 hasConcept C135763542 @default.
• W2798328801 hasConcept C153209595 @default.
• W2798328801 hasConcept C41008148 @default.
• W2798328801 hasConcept C51679486 @default.
• W2798328801 hasConcept C54355233 @default.
• W2798328801 hasConcept C60644358 @default.
• W2798328801 hasConcept C64869954 @default.
• W2798328801 hasConcept C70721500 @default.
• W2798328801 hasConcept C71924100 @default.
• W2798328801 hasConcept C76818968 @default.
• W2798328801 hasConcept C86803240 @default.
• W2798328801 hasConceptScore W2798328801C104317684 @default.
• W2798328801 hasConceptScore W2798328801C119054055 @default.
• W2798328801 hasConceptScore W2798328801C119857082 @default.
• W2798328801 hasConceptScore W2798328801C135763542 @default.
• W2798328801 hasConceptScore W2798328801C153209595 @default.
• W2798328801 hasConceptScore W2798328801C41008148 @default.
• W2798328801 hasConceptScore W2798328801C51679486 @default.
• W2798328801 hasConceptScore W2798328801C54355233 @default.
• W2798328801 hasConceptScore W2798328801C60644358 @default.
• W2798328801 hasConceptScore W2798328801C64869954 @default.
• W2798328801 hasConceptScore W2798328801C70721500 @default.
• W2798328801 hasConceptScore W2798328801C71924100 @default.
• W2798328801 hasConceptScore W2798328801C76818968 @default.
• W2798328801 hasConceptScore W2798328801C86803240 @default.
• W2798328801 hasLocation W27983288011 @default.
• W2798328801 hasOpenAccess W2798328801 @default.
• W2798328801 hasPrimaryLocation W27983288011 @default.
• W2798328801 hasRelatedWork W2027506812 @default.
• W2798328801 hasRelatedWork W2035543796 @default.
• W2798328801 hasRelatedWork W2051541385 @default.
• W2798328801 hasRelatedWork W2131029233 @default.
• W2798328801 hasRelatedWork W2181545651 @default.
• W2798328801 hasRelatedWork W2299670551 @default.
• W2798328801 hasRelatedWork W2300296757 @default.
• W2798328801 hasRelatedWork W2486834417 @default.
• W2798328801 hasRelatedWork W2529122589 @default.
• W2798328801 hasRelatedWork W2602310759 @default.
• W2798328801 hasRelatedWork W2803117744 @default.

• next