Matches in SemOpenAlex for { <https://semopenalex.org/work/W4289202327> ?p ?o ?g. }
- W4289202327 abstract "Genotyping arrays are by far the most widely used genetic tests but are not generally utilized for diagnostic purposes in a medical context. In the present study, we examined the diagnostic value of a standard genotyping array (Illumina Global Screening Array) for a range of indications. Applications included stand-alone testing for specific variants (32 variants in 10 genes), first-tier array variant screening for monogenic conditions (10 different autosomal recessive metabolic diseases), and diagnostic workup for specific conditions caused by variants in multiple genes (suspected familial breast and ovarian cancer, and hypercholesterolemia). Our analyses showed a high analytical sensitivity and specificity of array-based analyses for validated and non-validated variants, and identified pitfalls that require attention. Ethical-legal assessment highlighted the need for a software solution that allows for individual indication-based consent and the reliable exclusion of non-consented results. Cost/time assessment revealed excellent performance of diagnostic array analyses, depending on indication, proband data, and array design. We have implemented some analyses in our diagnostic portfolio, but array optimization is required for the implementation of other indications." @default.
- W4289202327 created "2022-08-01" @default.
- W4289202327 creator A5009931419 @default.
- W4289202327 creator A5011033718 @default.
- W4289202327 creator A5023062064 @default.
- W4289202327 creator A5027327288 @default.
- W4289202327 creator A5029226534 @default.
- W4289202327 creator A5060857129 @default.
- W4289202327 creator A5067775422 @default.
- W4289202327 creator A5073501081 @default.
- W4289202327 creator A5076941428 @default.
- W4289202327 creator A5088796699 @default.
- W4289202327 date "2022-08-01" @default.
- W4289202327 modified "2023-09-26" @default.
- W4289202327 title "Array genotyping as diagnostic approach in medical genetics" @default.
- W4289202327 cites W2066669827 @default.
- W4289202327 cites W2087689337 @default.
- W4289202327 cites W2126798609 @default.
- W4289202327 cites W2129359631 @default.
- W4289202327 cites W2216130876 @default.
- W4289202327 cites W2510973425 @default.
- W4289202327 cites W2608516201 @default.
- W4289202327 cites W2794120392 @default.
- W4289202327 cites W2803332630 @default.
- W4289202327 cites W2895429012 @default.
- W4289202327 cites W3040276841 @default.
- W4289202327 cites W3107941938 @default.
- W4289202327 cites W3130547723 @default.
- W4289202327 cites W3140440738 @default.
- W4289202327 cites W3150641603 @default.
- W4289202327 cites W3165929960 @default.
- W4289202327 cites W3175051898 @default.
- W4289202327 cites W4245651510 @default.
- W4289202327 cites W4254759095 @default.
- W4289202327 cites W4289202327 @default.
- W4289202327 doi "https://doi.org/10.1002/mgg3.2016" @default.
- W4289202327 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35912641" @default.
- W4289202327 hasPublicationYear "2022" @default.
- W4289202327 type Work @default.
- W4289202327 citedByCount "1" @default.
- W4289202327 countsByYear W42892023272022 @default.
- W4289202327 crossrefType "journal-article" @default.
- W4289202327 hasAuthorship W4289202327A5009931419 @default.
- W4289202327 hasAuthorship W4289202327A5011033718 @default.
- W4289202327 hasAuthorship W4289202327A5023062064 @default.
- W4289202327 hasAuthorship W4289202327A5027327288 @default.
- W4289202327 hasAuthorship W4289202327A5029226534 @default.
- W4289202327 hasAuthorship W4289202327A5060857129 @default.
- W4289202327 hasAuthorship W4289202327A5067775422 @default.
- W4289202327 hasAuthorship W4289202327A5073501081 @default.
- W4289202327 hasAuthorship W4289202327A5076941428 @default.
- W4289202327 hasAuthorship W4289202327A5088796699 @default.
- W4289202327 hasBestOaLocation W42892023271 @default.
- W4289202327 hasConcept C104317684 @default.
- W4289202327 hasConcept C135763542 @default.
- W4289202327 hasConcept C151730666 @default.
- W4289202327 hasConcept C187212893 @default.
- W4289202327 hasConcept C188997412 @default.
- W4289202327 hasConcept C2779343474 @default.
- W4289202327 hasConcept C2780673598 @default.
- W4289202327 hasConcept C31467283 @default.
- W4289202327 hasConcept C501734568 @default.
- W4289202327 hasConcept C54355233 @default.
- W4289202327 hasConcept C60644358 @default.
- W4289202327 hasConcept C70721500 @default.
- W4289202327 hasConcept C71924100 @default.
- W4289202327 hasConcept C82157600 @default.
- W4289202327 hasConcept C86803240 @default.
- W4289202327 hasConceptScore W4289202327C104317684 @default.
- W4289202327 hasConceptScore W4289202327C135763542 @default.
- W4289202327 hasConceptScore W4289202327C151730666 @default.
- W4289202327 hasConceptScore W4289202327C187212893 @default.
- W4289202327 hasConceptScore W4289202327C188997412 @default.
- W4289202327 hasConceptScore W4289202327C2779343474 @default.
- W4289202327 hasConceptScore W4289202327C2780673598 @default.
- W4289202327 hasConceptScore W4289202327C31467283 @default.
- W4289202327 hasConceptScore W4289202327C501734568 @default.
- W4289202327 hasConceptScore W4289202327C54355233 @default.
- W4289202327 hasConceptScore W4289202327C60644358 @default.
- W4289202327 hasConceptScore W4289202327C70721500 @default.
- W4289202327 hasConceptScore W4289202327C71924100 @default.
- W4289202327 hasConceptScore W4289202327C82157600 @default.
- W4289202327 hasConceptScore W4289202327C86803240 @default.
- W4289202327 hasIssue "9" @default.
- W4289202327 hasLocation W42892023271 @default.
- W4289202327 hasLocation W42892023272 @default.
- W4289202327 hasLocation W42892023273 @default.
- W4289202327 hasLocation W42892023274 @default.
- W4289202327 hasOpenAccess W4289202327 @default.
- W4289202327 hasPrimaryLocation W42892023271 @default.
- W4289202327 hasRelatedWork W1979299596 @default.
- W4289202327 hasRelatedWork W1991523530 @default.
- W4289202327 hasRelatedWork W2002128513 @default.
- W4289202327 hasRelatedWork W2007370270 @default.
- W4289202327 hasRelatedWork W2020824267 @default.
- W4289202327 hasRelatedWork W2057739827 @default.
- W4289202327 hasRelatedWork W2801760893 @default.
- W4289202327 hasRelatedWork W2909219216 @default.
- W4289202327 hasRelatedWork W3130085093 @default.
- W4289202327 hasRelatedWork W2092874662 @default.