FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1539008006> ?p ?o ?g. }

• W1539008006 endingPage "70" @default.
• W1539008006 startingPage "e58" @default.
• W1539008006 abstract "Screening for mutations in large genes is challenging in a molecular diagnostic environment. Sanger-based DNA sequencing methods are largely used; however, massively parallel sequencing (MPS) can accommodate increasing test demands and financial constraints. This study aimed to establish a simple workflow to amplify and screen all coding regions of the BRCA1 and BRCA2 (BRCA1/2) genes by Sanger-based sequencing as well as to assess a MPS approach encompassing multiplex polymerase chain reaction (PCR) and pyrosequencing.This study was conducted between July 2011 and April 2013. A total of 20 patients were included in the study who had been referred to Genetic Health Services New Zealand (Northern Hub) for BRCA1/2 mutation screening. Patients were randomly divided into a MPS evaluation and validation cohort (n = 10 patients each). Primers were designed to amplify all coding exons of BRCA1/2 (28 and 42 primer pairs, respectively). Primers overlying known variants were avoided to circumvent allelic drop-out. The MPS approach necessitated utilisation of a complementary fragment analysis assay to eliminate apparent false-positives at homopolymeric regions. Variants were filtered on the basis of their frequency and sequence depth.Sanger-based sequencing of PCR-amplified coding regions was successfully achieved. Sensitivity and specificity of the combined MPS/homopolymer protocol was determined to be 100% and 99.5%, respectively.In comparison to traditional Sanger-based sequencing, the MPS workflow led to a reduction in both cost and analysis time for BRCA1/2 screening. MPS analysis achieved high analytical sensitivity and specificity, but required complementary fragment analysis combined with Sanger-based sequencing confirmation in some instances." @default.
• W1539008006 created "2016-06-24" @default.
• W1539008006 creator A5000808806 @default.
• W1539008006 creator A5001369025 @default.
• W1539008006 creator A5005968434 @default.
• W1539008006 creator A5043034080 @default.
• W1539008006 creator A5077797593 @default.
• W1539008006 creator A5091892758 @default.
• W1539008006 date "2015-02-01" @default.
• W1539008006 modified "2023-09-26" @default.
• W1539008006 title "Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes." @default.
• W1539008006 cites W110171954 @default.
• W1539008006 cites W1271476753 @default.
• W1539008006 cites W1601687245 @default.
• W1539008006 cites W1951245463 @default.
• W1539008006 cites W1966936568 @default.
• W1539008006 cites W1986474467 @default.
• W1539008006 cites W1993342975 @default.
• W1539008006 cites W2028622989 @default.
• W1539008006 cites W2029065599 @default.
• W1539008006 cites W2037170370 @default.
• W1539008006 cites W2040074091 @default.
• W1539008006 cites W2056967728 @default.
• W1539008006 cites W2072175909 @default.
• W1539008006 cites W2076432405 @default.
• W1539008006 cites W2081427847 @default.
• W1539008006 cites W2091866157 @default.
• W1539008006 cites W2109819853 @default.
• W1539008006 cites W2113649367 @default.
• W1539008006 cites W2118526609 @default.
• W1539008006 cites W2119923823 @default.
• W1539008006 cites W2123690188 @default.
• W1539008006 cites W2138270253 @default.
• W1539008006 cites W2143929685 @default.
• W1539008006 cites W2152615936 @default.
• W1539008006 cites W2153993827 @default.
• W1539008006 cites W2156592167 @default.
• W1539008006 cites W2157603242 @default.
• W1539008006 cites W2159265519 @default.
• W1539008006 cites W2169002484 @default.
• W1539008006 cites W2328105863 @default.
• W1539008006 cites W2616754551 @default.
• W1539008006 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4318608" @default.
• W1539008006 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25685387" @default.
• W1539008006 hasPublicationYear "2015" @default.
• W1539008006 type Work @default.
• W1539008006 sameAs 1539008006 @default.
• W1539008006 citedByCount "4" @default.
• W1539008006 countsByYear W15390080062015 @default.
• W1539008006 countsByYear W15390080062018 @default.
• W1539008006 countsByYear W15390080062022 @default.
• W1539008006 countsByYear W15390080062023 @default.
• W1539008006 crossrefType "journal-article" @default.
• W1539008006 hasAuthorship W1539008006A5000808806 @default.
• W1539008006 hasAuthorship W1539008006A5001369025 @default.
• W1539008006 hasAuthorship W1539008006A5005968434 @default.
• W1539008006 hasAuthorship W1539008006A5043034080 @default.
• W1539008006 hasAuthorship W1539008006A5077797593 @default.
• W1539008006 hasAuthorship W1539008006A5091892758 @default.
• W1539008006 hasConcept C104317684 @default.
• W1539008006 hasConcept C125009961 @default.
• W1539008006 hasConcept C192800701 @default.
• W1539008006 hasConcept C2781188995 @default.
• W1539008006 hasConcept C49105822 @default.
• W1539008006 hasConcept C51679486 @default.
• W1539008006 hasConcept C54355233 @default.
• W1539008006 hasConcept C61053724 @default.
• W1539008006 hasConcept C70721500 @default.
• W1539008006 hasConcept C71924100 @default.
• W1539008006 hasConcept C76818968 @default.
• W1539008006 hasConcept C86803240 @default.
• W1539008006 hasConceptScore W1539008006C104317684 @default.
• W1539008006 hasConceptScore W1539008006C125009961 @default.
• W1539008006 hasConceptScore W1539008006C192800701 @default.
• W1539008006 hasConceptScore W1539008006C2781188995 @default.
• W1539008006 hasConceptScore W1539008006C49105822 @default.
• W1539008006 hasConceptScore W1539008006C51679486 @default.
• W1539008006 hasConceptScore W1539008006C54355233 @default.
• W1539008006 hasConceptScore W1539008006C61053724 @default.
• W1539008006 hasConceptScore W1539008006C70721500 @default.
• W1539008006 hasConceptScore W1539008006C71924100 @default.
• W1539008006 hasConceptScore W1539008006C76818968 @default.
• W1539008006 hasConceptScore W1539008006C86803240 @default.
• W1539008006 hasIssue "1" @default.
• W1539008006 hasLocation W15390080061 @default.
• W1539008006 hasOpenAccess W1539008006 @default.
• W1539008006 hasPrimaryLocation W15390080061 @default.
• W1539008006 hasRelatedWork W1539008006 @default.
• W1539008006 hasRelatedWork W1788853955 @default.
• W1539008006 hasRelatedWork W1977214627 @default.
• W1539008006 hasRelatedWork W2015653563 @default.
• W1539008006 hasRelatedWork W2108800379 @default.
• W1539008006 hasRelatedWork W213212739 @default.
• W1539008006 hasRelatedWork W2156542815 @default.
• W1539008006 hasRelatedWork W2226596076 @default.
• W1539008006 hasRelatedWork W2810397663 @default.
• W1539008006 hasRelatedWork W4366393507 @default.
• W1539008006 hasVolume "15" @default.

• next