FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2950796818> ?p ?o ?g. }

• W2950796818 abstract "The detection of genomic structural variation (SV) has advanced tremendously in recent years due to progress in high-throughput sequencing technologies. Novel sequence insertions, insertions without similarity to a human reference genome, have received less attention than other types of SVs due to the computational challenges in their detection from short read sequencing data, which inherently involves de novo assembly. De novo assembly is not only computationally challenging, but also requires high-quality data. While the reads from a single individual may not always meet this requirement, using reads from multiple individuals can increase power to detect novel insertions. We have developed the program PopIns, which can discover and characterize non-reference insertions of 100 bp or longer on a population scale. In this paper, we describe the approach we implemented in PopIns. It takes as input a reads-to-reference alignment, assembles unaligned reads using a standard assembly tool, merges the contigs of different individuals into high-confidence sequences, anchors the merged sequences into the reference genome, and finally genotypes all individuals for the discovered insertions. Our tests on simulated data indicate that the merging step greatly improves the quality and reliability of predicted insertions and that PopIns shows significantly better recall and precision than the recent tool MindTheGap. Preliminary results on a data set of 305 Icelanders demonstrate the practicality of the new approach. The source code of PopIns is available from this http URL" @default.
• W2950796818 created "2019-06-27" @default.
• W2950796818 creator A5004725925 @default.
• W2950796818 creator A5018556494 @default.
• W2950796818 creator A5051176054 @default.
• W2950796818 date "2015-04-08" @default.
• W2950796818 modified "2023-10-17" @default.
• W2950796818 title "PopIns: population-scale detection of novel sequence insertions" @default.
• W2950796818 cites W1596062789 @default.
• W2950796818 cites W1969153299 @default.
• W2950796818 cites W1972924519 @default.
• W2950796818 cites W2002438422 @default.
• W2950796818 cites W2002638840 @default.
• W2950796818 cites W2010361633 @default.
• W2950796818 cites W2021714239 @default.
• W2950796818 cites W2022986961 @default.
• W2950796818 cites W2036626452 @default.
• W2950796818 cites W2058401000 @default.
• W2950796818 cites W2061338306 @default.
• W2950796818 cites W2110171180 @default.
• W2950796818 cites W2116126626 @default.
• W2950796818 cites W2117716708 @default.
• W2950796818 cites W2119180969 @default.
• W2950796818 cites W2120902911 @default.
• W2950796818 cites W2127230663 @default.
• W2950796818 cites W2130530163 @default.
• W2950796818 cites W2138138356 @default.
• W2950796818 cites W2146005104 @default.
• W2950796818 cites W2159507326 @default.
• W2950796818 cites W2160969485 @default.
• W2950796818 cites W2161546116 @default.
• W2950796818 cites W2162212014 @default.
• W2950796818 cites W2165963439 @default.
• W2950796818 cites W2168133698 @default.
• W2950796818 cites W2171071054 @default.
• W2950796818 cites W26356079 @default.
• W2950796818 cites W2055049233 @default.
• W2950796818 hasPublicationYear "2015" @default.
• W2950796818 type Work @default.
• W2950796818 sameAs 2950796818 @default.
• W2950796818 citedByCount "0" @default.
• W2950796818 crossrefType "posted-content" @default.
• W2950796818 hasAuthorship W2950796818A5004725925 @default.
• W2950796818 hasAuthorship W2950796818A5018556494 @default.
• W2950796818 hasAuthorship W2950796818A5051176054 @default.
• W2950796818 hasConcept C104317684 @default.
• W2950796818 hasConcept C111919701 @default.
• W2950796818 hasConcept C121332964 @default.
• W2950796818 hasConcept C124101348 @default.
• W2950796818 hasConcept C141231307 @default.
• W2950796818 hasConcept C144024400 @default.
• W2950796818 hasConcept C149923435 @default.
• W2950796818 hasConcept C150194340 @default.
• W2950796818 hasConcept C151020129 @default.
• W2950796818 hasConcept C154945302 @default.
• W2950796818 hasConcept C162317418 @default.
• W2950796818 hasConcept C163258240 @default.
• W2950796818 hasConcept C177264268 @default.
• W2950796818 hasConcept C18949551 @default.
• W2950796818 hasConcept C192953774 @default.
• W2950796818 hasConcept C199360897 @default.
• W2950796818 hasConcept C2778112365 @default.
• W2950796818 hasConcept C2908647359 @default.
• W2950796818 hasConcept C41008148 @default.
• W2950796818 hasConcept C43126263 @default.
• W2950796818 hasConcept C43214815 @default.
• W2950796818 hasConcept C54355233 @default.
• W2950796818 hasConcept C59582021 @default.
• W2950796818 hasConcept C62520636 @default.
• W2950796818 hasConcept C70721500 @default.
• W2950796818 hasConcept C81669768 @default.
• W2950796818 hasConcept C86803240 @default.
• W2950796818 hasConceptScore W2950796818C104317684 @default.
• W2950796818 hasConceptScore W2950796818C111919701 @default.
• W2950796818 hasConceptScore W2950796818C121332964 @default.
• W2950796818 hasConceptScore W2950796818C124101348 @default.
• W2950796818 hasConceptScore W2950796818C141231307 @default.
• W2950796818 hasConceptScore W2950796818C144024400 @default.
• W2950796818 hasConceptScore W2950796818C149923435 @default.
• W2950796818 hasConceptScore W2950796818C150194340 @default.
• W2950796818 hasConceptScore W2950796818C151020129 @default.
• W2950796818 hasConceptScore W2950796818C154945302 @default.
• W2950796818 hasConceptScore W2950796818C162317418 @default.
• W2950796818 hasConceptScore W2950796818C163258240 @default.
• W2950796818 hasConceptScore W2950796818C177264268 @default.
• W2950796818 hasConceptScore W2950796818C18949551 @default.
• W2950796818 hasConceptScore W2950796818C192953774 @default.
• W2950796818 hasConceptScore W2950796818C199360897 @default.
• W2950796818 hasConceptScore W2950796818C2778112365 @default.
• W2950796818 hasConceptScore W2950796818C2908647359 @default.
• W2950796818 hasConceptScore W2950796818C41008148 @default.
• W2950796818 hasConceptScore W2950796818C43126263 @default.
• W2950796818 hasConceptScore W2950796818C43214815 @default.
• W2950796818 hasConceptScore W2950796818C54355233 @default.
• W2950796818 hasConceptScore W2950796818C59582021 @default.
• W2950796818 hasConceptScore W2950796818C62520636 @default.
• W2950796818 hasConceptScore W2950796818C70721500 @default.
• W2950796818 hasConceptScore W2950796818C81669768 @default.
• W2950796818 hasConceptScore W2950796818C86803240 @default.
• W2950796818 hasLocation W29507968181 @default.

• next