Matches in SemOpenAlex for { <https://semopenalex.org/work/W2028561254> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W2028561254 endingPage "77" @default.
- W2028561254 startingPage "72" @default.
- W2028561254 abstract "Recent advances in next generation sequencing (NGS) technology have enabled comprehensive and accurate screening of the entire genomic region of BRCA1/2 genes and, to date, many studies report the effectiveness of these technologies. Here we show that Gene Scan (GS) labeling Quality Control (QC), performed before massive parallel pyrosequencing, coupled with Multiple Amplicon Quantification software (MAQ-S) analysis is a rapid and powerful tool in the detection of deleterious BRCA mutations carried by different patients. GS labeling QC assay was performed according to the manufacturers' instructions and MAQ-S software was employed for analysis results. GS labeling QC was able to detect 14 different BRCA frameshift mutations in our patients. In addition, two novel BRCA mutations (c.1893_1894insTTAAGCCCACAAAT in BRCA1 gene and c.9413_9414insT in BRCA2 gene) were identified. We prove that a simple QC step may represent a valid and useful tool for a rapid detection of frameshift mutations in BRCA genes. For this reason, we recommend using this approach before massive parallel sequencing." @default.
- W2028561254 created "2016-06-24" @default.
- W2028561254 creator A5008284643 @default.
- W2028561254 creator A5016386021 @default.
- W2028561254 creator A5026048739 @default.
- W2028561254 creator A5040656664 @default.
- W2028561254 creator A5064108236 @default.
- W2028561254 creator A5066915210 @default.
- W2028561254 creator A5073293203 @default.
- W2028561254 creator A5079985047 @default.
- W2028561254 creator A5090921040 @default.
- W2028561254 date "2014-11-01" @default.
- W2028561254 modified "2023-09-30" @default.
- W2028561254 title "A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations" @default.
- W2028561254 cites W2011430108 @default.
- W2028561254 cites W2024295822 @default.
- W2028561254 cites W2030093162 @default.
- W2028561254 cites W2040074091 @default.
- W2028561254 cites W2064371144 @default.
- W2028561254 cites W2076740533 @default.
- W2028561254 cites W2109465247 @default.
- W2028561254 cites W2110878808 @default.
- W2028561254 doi "https://doi.org/10.1016/j.cca.2014.06.026" @default.
- W2028561254 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25007954" @default.
- W2028561254 hasPublicationYear "2014" @default.
- W2028561254 type Work @default.
- W2028561254 sameAs 2028561254 @default.
- W2028561254 citedByCount "17" @default.
- W2028561254 countsByYear W20285612542015 @default.
- W2028561254 countsByYear W20285612542016 @default.
- W2028561254 countsByYear W20285612542017 @default.
- W2028561254 countsByYear W20285612542018 @default.
- W2028561254 countsByYear W20285612542019 @default.
- W2028561254 countsByYear W20285612542020 @default.
- W2028561254 countsByYear W20285612542023 @default.
- W2028561254 crossrefType "journal-article" @default.
- W2028561254 hasAuthorship W2028561254A5008284643 @default.
- W2028561254 hasAuthorship W2028561254A5016386021 @default.
- W2028561254 hasAuthorship W2028561254A5026048739 @default.
- W2028561254 hasAuthorship W2028561254A5040656664 @default.
- W2028561254 hasAuthorship W2028561254A5064108236 @default.
- W2028561254 hasAuthorship W2028561254A5066915210 @default.
- W2028561254 hasAuthorship W2028561254A5073293203 @default.
- W2028561254 hasAuthorship W2028561254A5079985047 @default.
- W2028561254 hasAuthorship W2028561254A5090921040 @default.
- W2028561254 hasConcept C104317684 @default.
- W2028561254 hasConcept C125009961 @default.
- W2028561254 hasConcept C29906990 @default.
- W2028561254 hasConcept C2993206177 @default.
- W2028561254 hasConcept C42062724 @default.
- W2028561254 hasConcept C49105822 @default.
- W2028561254 hasConcept C501734568 @default.
- W2028561254 hasConcept C51679486 @default.
- W2028561254 hasConcept C54355233 @default.
- W2028561254 hasConcept C70721500 @default.
- W2028561254 hasConcept C8185291 @default.
- W2028561254 hasConcept C86803240 @default.
- W2028561254 hasConceptScore W2028561254C104317684 @default.
- W2028561254 hasConceptScore W2028561254C125009961 @default.
- W2028561254 hasConceptScore W2028561254C29906990 @default.
- W2028561254 hasConceptScore W2028561254C2993206177 @default.
- W2028561254 hasConceptScore W2028561254C42062724 @default.
- W2028561254 hasConceptScore W2028561254C49105822 @default.
- W2028561254 hasConceptScore W2028561254C501734568 @default.
- W2028561254 hasConceptScore W2028561254C51679486 @default.
- W2028561254 hasConceptScore W2028561254C54355233 @default.
- W2028561254 hasConceptScore W2028561254C70721500 @default.
- W2028561254 hasConceptScore W2028561254C8185291 @default.
- W2028561254 hasConceptScore W2028561254C86803240 @default.
- W2028561254 hasLocation W20285612541 @default.
- W2028561254 hasLocation W20285612542 @default.
- W2028561254 hasOpenAccess W2028561254 @default.
- W2028561254 hasPrimaryLocation W20285612541 @default.
- W2028561254 hasRelatedWork W120656439 @default.
- W2028561254 hasRelatedWork W1966689073 @default.
- W2028561254 hasRelatedWork W2028561254 @default.
- W2028561254 hasRelatedWork W2158877985 @default.
- W2028561254 hasRelatedWork W2165308292 @default.
- W2028561254 hasRelatedWork W2728043704 @default.
- W2028561254 hasRelatedWork W2790476076 @default.
- W2028561254 hasRelatedWork W2802510533 @default.
- W2028561254 hasRelatedWork W3138160972 @default.
- W2028561254 hasRelatedWork W4211080546 @default.
- W2028561254 hasVolume "437" @default.
- W2028561254 isParatext "false" @default.
- W2028561254 isRetracted "false" @default.
- W2028561254 magId "2028561254" @default.
- W2028561254 workType "article" @default.