FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2892164143> ?p ?o ?g. }

• W2892164143 endingPage "33655" @default.
• W2892164143 startingPage "33648" @default.
• W2892164143 abstract "Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment. An efficient, rapid, cost-effective accurate strategy for the detection of pathogenic variants is crucial. Mutations detection of BRCA1/2 genes includes screening for single nucleotide variants (SNVs), small insertions or deletions (indels), and Copy Number Variations (CNVs). Sanger sequencing is unable to identify CNVs and therefore Multiplex Ligation Probe amplification (MLPA) or Multiplex Amplicon Quantification (MAQ) is used to complete the BRCA1/2 genes analysis. The rapid evolution of Next Generation Sequencing (NGS) technologies allows the search for point mutations and CNVs with a single platform and workflow. In this study we test the possibilities of NGS technology to simultaneously detect point mutations and CNVs in BRCA1/2 genes, using the OncomineTM BRCA Research Assay on Personal Genome Machine (PGM) Platform with Ion Reporter Software for sequencing data analysis (Thermo Fisher Scientific). Comparison between the NGS-CNVs, MLPA and MAQ results shows how the NGS approach is the most complete and fast method for the simultaneous detection of all BRCA mutations, avoiding the usual time consuming multistep approach in the routine diagnostic testing of hereditary breast and ovarian cancers." @default.
• W2892164143 created "2018-09-27" @default.
• W2892164143 creator A5004617630 @default.
• W2892164143 creator A5009445736 @default.
• W2892164143 creator A5015862529 @default.
• W2892164143 creator A5018723879 @default.
• W2892164143 creator A5021443987 @default.
• W2892164143 creator A5023906491 @default.
• W2892164143 creator A5034123964 @default.
• W2892164143 creator A5044170850 @default.
• W2892164143 creator A5051341869 @default.
• W2892164143 creator A5067359802 @default.
• W2892164143 creator A5086706420 @default.
• W2892164143 creator A5091304067 @default.
• W2892164143 date "2018-09-14" @default.
• W2892164143 modified "2023-09-26" @default.
• W2892164143 title "Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline" @default.
• W2892164143 cites W1591121676 @default.
• W2892164143 cites W1879140704 @default.
• W2892164143 cites W1983781571 @default.
• W2892164143 cites W2044210218 @default.
• W2892164143 cites W2051962100 @default.
• W2892164143 cites W2052937042 @default.
• W2892164143 cites W2076740533 @default.
• W2892164143 cites W2085755265 @default.
• W2892164143 cites W2088346456 @default.
• W2892164143 cites W2091661032 @default.
• W2892164143 cites W2102509454 @default.
• W2892164143 cites W2103195302 @default.
• W2892164143 cites W2110137106 @default.
• W2892164143 cites W2113926943 @default.
• W2892164143 cites W2122328073 @default.
• W2892164143 cites W2124945523 @default.
• W2892164143 cites W2125171234 @default.
• W2892164143 cites W2143924924 @default.
• W2892164143 cites W2146112295 @default.
• W2892164143 cites W2151413771 @default.
• W2892164143 cites W2468638035 @default.
• W2892164143 cites W2509689465 @default.
• W2892164143 cites W2529023750 @default.
• W2892164143 cites W2529709253 @default.
• W2892164143 cites W2532047629 @default.
• W2892164143 cites W2560770257 @default.
• W2892164143 cites W2625802002 @default.
• W2892164143 cites W2745493620 @default.
• W2892164143 cites W2771822219 @default.
• W2892164143 cites W2789851018 @default.
• W2892164143 cites W2790920105 @default.
• W2892164143 cites W2794255277 @default.
• W2892164143 cites W2801214434 @default.
• W2892164143 cites W3139662153 @default.
• W2892164143 doi "https://doi.org/10.18632/oncotarget.26000" @default.
• W2892164143 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6154752" @default.
• W2892164143 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30263092" @default.
• W2892164143 hasPublicationYear "2018" @default.
• W2892164143 type Work @default.
• W2892164143 sameAs 2892164143 @default.
• W2892164143 citedByCount "10" @default.
• W2892164143 countsByYear W28921641432019 @default.
• W2892164143 countsByYear W28921641432020 @default.
• W2892164143 countsByYear W28921641432021 @default.
• W2892164143 countsByYear W28921641432022 @default.
• W2892164143 crossrefType "journal-article" @default.
• W2892164143 hasAuthorship W2892164143A5004617630 @default.
• W2892164143 hasAuthorship W2892164143A5009445736 @default.
• W2892164143 hasAuthorship W2892164143A5015862529 @default.
• W2892164143 hasAuthorship W2892164143A5018723879 @default.
• W2892164143 hasAuthorship W2892164143A5021443987 @default.
• W2892164143 hasAuthorship W2892164143A5023906491 @default.
• W2892164143 hasAuthorship W2892164143A5034123964 @default.
• W2892164143 hasAuthorship W2892164143A5044170850 @default.
• W2892164143 hasAuthorship W2892164143A5051341869 @default.
• W2892164143 hasAuthorship W2892164143A5067359802 @default.
• W2892164143 hasAuthorship W2892164143A5086706420 @default.
• W2892164143 hasAuthorship W2892164143A5091304067 @default.
• W2892164143 hasBestOaLocation W28921641431 @default.
• W2892164143 hasConcept C104317684 @default.
• W2892164143 hasConcept C119054055 @default.
• W2892164143 hasConcept C120599132 @default.
• W2892164143 hasConcept C120821319 @default.
• W2892164143 hasConcept C135763542 @default.
• W2892164143 hasConcept C141231307 @default.
• W2892164143 hasConcept C153209595 @default.
• W2892164143 hasConcept C164928082 @default.
• W2892164143 hasConcept C176944494 @default.
• W2892164143 hasConcept C189206191 @default.
• W2892164143 hasConcept C192800701 @default.
• W2892164143 hasConcept C24103923 @default.
• W2892164143 hasConcept C2781188995 @default.
• W2892164143 hasConcept C36823959 @default.
• W2892164143 hasConcept C49105822 @default.
• W2892164143 hasConcept C501734568 @default.
• W2892164143 hasConcept C51679486 @default.
• W2892164143 hasConcept C54355233 @default.
• W2892164143 hasConcept C70721500 @default.
• W2892164143 hasConcept C76818968 @default.
• W2892164143 hasConcept C8185291 @default.
• W2892164143 hasConcept C86803240 @default.

• next