FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2044002275> ?p ?o ?g. }

• W2044002275 endingPage "6554" @default.
• W2044002275 startingPage "6549" @default.
• W2044002275 abstract "The accurate and complete selection of candidate genomic regions from a DNA sample before sequencing is critical in molecular diagnostics. Several recently developed technologies await substantial improvements in performance, cost, and multiplex sample processing. Here we present the utility of long padlock probes (LPPs) for targeted exon capture followed by array-based sequencing. We found that on average 92% of 5,471 exons from 524 nuclear-encoded mitochondrial genes were successfully amplified from genomic DNA from 63 individuals. Only 144 exons did not amplify in any sample due to high GC content. One LPP was sufficient to capture sequences from <100-500 bp in length and only a single-tube capture reaction and one microarray was required per sample. Our approach was highly reproducible and quick (<8 h) and detected DNA variants at high accuracy (false discovery rate 1%, false negative rate 3%) on the basis of known sample SNPs and Sanger sequence verification. In a patient with clinical and biochemical presentation of ornithine transcarbamylase (OTC) deficiency, we identified copy-number differences in the OTC gene at exon-level resolution. This shows the ability of LPPs to accurately preserve a sample's genome information and provides a cost-effective strategy to identify both single nucleotide changes and structural variants in targeted resequencing." @default.
• W2044002275 created "2016-06-24" @default.
• W2044002275 creator A5001135422 @default.
• W2044002275 creator A5005460150 @default.
• W2044002275 creator A5008356363 @default.
• W2044002275 creator A5012285121 @default.
• W2044002275 creator A5015785597 @default.
• W2044002275 creator A5022830611 @default.
• W2044002275 creator A5024441435 @default.
• W2044002275 creator A5035070858 @default.
• W2044002275 creator A5055797335 @default.
• W2044002275 creator A5076827794 @default.
• W2044002275 date "2011-04-05" @default.
• W2044002275 modified "2023-10-13" @default.
• W2044002275 title "High-quality DNA sequence capture of 524 disease candidate genes" @default.
• W2044002275 cites W1969596239 @default.
• W2044002275 cites W1973878786 @default.
• W2044002275 cites W1996547052 @default.
• W2044002275 cites W2011832962 @default.
• W2044002275 cites W2014852291 @default.
• W2044002275 cites W2020154367 @default.
• W2044002275 cites W2025221727 @default.
• W2044002275 cites W2036210716 @default.
• W2044002275 cites W2047253404 @default.
• W2044002275 cites W2057578107 @default.
• W2044002275 cites W2079572258 @default.
• W2044002275 cites W2083121396 @default.
• W2044002275 cites W2121531763 @default.
• W2044002275 cites W2127457293 @default.
• W2044002275 cites W2133604043 @default.
• W2044002275 cites W2133980123 @default.
• W2044002275 cites W2142403957 @default.
• W2044002275 cites W2147008415 @default.
• W2044002275 cites W2148482475 @default.
• W2044002275 cites W2149615023 @default.
• W2044002275 cites W2150709695 @default.
• W2044002275 cites W2157683435 @default.
• W2044002275 cites W2161315819 @default.
• W2044002275 cites W2162370352 @default.
• W2044002275 cites W2164112721 @default.
• W2044002275 cites W2167651825 @default.
• W2044002275 doi "https://doi.org/10.1073/pnas.1018981108" @default.
• W2044002275 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3080966" @default.
• W2044002275 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21467225" @default.
• W2044002275 hasPublicationYear "2011" @default.
• W2044002275 type Work @default.
• W2044002275 sameAs 2044002275 @default.
• W2044002275 citedByCount "56" @default.
• W2044002275 countsByYear W20440022752012 @default.
• W2044002275 countsByYear W20440022752013 @default.
• W2044002275 countsByYear W20440022752014 @default.
• W2044002275 countsByYear W20440022752015 @default.
• W2044002275 countsByYear W20440022752016 @default.
• W2044002275 countsByYear W20440022752017 @default.
• W2044002275 countsByYear W20440022752018 @default.
• W2044002275 countsByYear W20440022752019 @default.
• W2044002275 countsByYear W20440022752020 @default.
• W2044002275 countsByYear W20440022752021 @default.
• W2044002275 countsByYear W20440022752022 @default.
• W2044002275 countsByYear W20440022752023 @default.
• W2044002275 crossrefType "journal-article" @default.
• W2044002275 hasAuthorship W2044002275A5001135422 @default.
• W2044002275 hasAuthorship W2044002275A5005460150 @default.
• W2044002275 hasAuthorship W2044002275A5008356363 @default.
• W2044002275 hasAuthorship W2044002275A5012285121 @default.
• W2044002275 hasAuthorship W2044002275A5015785597 @default.
• W2044002275 hasAuthorship W2044002275A5022830611 @default.
• W2044002275 hasAuthorship W2044002275A5024441435 @default.
• W2044002275 hasAuthorship W2044002275A5035070858 @default.
• W2044002275 hasAuthorship W2044002275A5055797335 @default.
• W2044002275 hasAuthorship W2044002275A5076827794 @default.
• W2044002275 hasBestOaLocation W20440022752 @default.
• W2044002275 hasConcept C104317684 @default.
• W2044002275 hasConcept C141231307 @default.
• W2044002275 hasConcept C17757408 @default.
• W2044002275 hasConcept C192953774 @default.
• W2044002275 hasConcept C193244246 @default.
• W2044002275 hasConcept C2781188995 @default.
• W2044002275 hasConcept C36823959 @default.
• W2044002275 hasConcept C51679486 @default.
• W2044002275 hasConcept C54355233 @default.
• W2044002275 hasConcept C70721500 @default.
• W2044002275 hasConcept C76818968 @default.
• W2044002275 hasConcept C86803240 @default.
• W2044002275 hasConceptScore W2044002275C104317684 @default.
• W2044002275 hasConceptScore W2044002275C141231307 @default.
• W2044002275 hasConceptScore W2044002275C17757408 @default.
• W2044002275 hasConceptScore W2044002275C192953774 @default.
• W2044002275 hasConceptScore W2044002275C193244246 @default.
• W2044002275 hasConceptScore W2044002275C2781188995 @default.
• W2044002275 hasConceptScore W2044002275C36823959 @default.
• W2044002275 hasConceptScore W2044002275C51679486 @default.
• W2044002275 hasConceptScore W2044002275C54355233 @default.
• W2044002275 hasConceptScore W2044002275C70721500 @default.
• W2044002275 hasConceptScore W2044002275C76818968 @default.
• W2044002275 hasConceptScore W2044002275C86803240 @default.
• W2044002275 hasIssue "16" @default.
• W2044002275 hasLocation W20440022751 @default.

• next