FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2146245718> ?p ?o ?g. }

• W2146245718 endingPage "1718" @default.
• W2146245718 startingPage "1711" @default.
• W2146245718 abstract "Pooled-DNA sequencing strategies enable fast, accurate, and cost-effect detection of rare variants, but current approaches are not able to accurately identify short insertions and deletions (indels), despite their pivotal role in genetic disease. Furthermore, the sensitivity and specificity of these methods depend on arbitrary, user-selected significance thresholds, whose optimal values change from experiment to experiment. Here, we present a combined experimental and computational strategy that combines a synthetically engineered DNA library inserted in each run and a new computational approach named SPLINTER that detects and quantifies short indels and substitutions in large pools. SPLINTER integrates information from the synthetic library to select the optimal significance thresholds for every experiment. We show that SPLINTER detects indels (up to 4 bp) and substitutions in large pools with high sensitivity and specificity, accurately quantifies variant frequency (r = 0.999), and compares favorably with existing algorithms for the analysis of pooled sequencing data. We applied our approach to analyze a cohort of 1152 individuals, identifying 48 variants and validating 14 of 14 (100%) predictions by individual genotyping. Thus, our strategy provides a novel and sensitive method that will speed the discovery of novel disease-causing rare variants." @default.
• W2146245718 created "2016-06-24" @default.
• W2146245718 creator A5012032969 @default.
• W2146245718 creator A5028435359 @default.
• W2146245718 creator A5029873409 @default.
• W2146245718 creator A5057569401 @default.
• W2146245718 creator A5074358233 @default.
• W2146245718 creator A5078610004 @default.
• W2146245718 creator A5087903696 @default.
• W2146245718 date "2010-11-01" @default.
• W2146245718 modified "2023-09-25" @default.
• W2146245718 title "High-throughput discovery of rare insertions and deletions in large cohorts" @default.
• W2146245718 cites W1968592024 @default.
• W2146245718 cites W1980991473 @default.
• W2146245718 cites W1987493079 @default.
• W2146245718 cites W2015849111 @default.
• W2146245718 cites W2031581341 @default.
• W2146245718 cites W2058148991 @default.
• W2146245718 cites W2077153641 @default.
• W2146245718 cites W2085850813 @default.
• W2146245718 cites W2087025655 @default.
• W2146245718 cites W2089048280 @default.
• W2146245718 cites W2103931879 @default.
• W2146245718 cites W2108234281 @default.
• W2146245718 cites W2110343195 @default.
• W2146245718 cites W2112113834 @default.
• W2146245718 cites W2113221334 @default.
• W2146245718 cites W2115610250 @default.
• W2146245718 cites W2118653712 @default.
• W2146245718 cites W2120142944 @default.
• W2146245718 cites W2128262534 @default.
• W2146245718 cites W2133980123 @default.
• W2146245718 cites W2139216037 @default.
• W2146245718 cites W2158116492 @default.
• W2146245718 cites W2161815151 @default.
• W2146245718 cites W2161935988 @default.
• W2146245718 cites W2166754606 @default.
• W2146245718 cites W2171060123 @default.
• W2146245718 doi "https://doi.org/10.1101/gr.109157.110" @default.
• W2146245718 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2989997" @default.
• W2146245718 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21041413" @default.
• W2146245718 hasPublicationYear "2010" @default.
• W2146245718 type Work @default.
• W2146245718 sameAs 2146245718 @default.
• W2146245718 citedByCount "57" @default.
• W2146245718 countsByYear W21462457182012 @default.
• W2146245718 countsByYear W21462457182013 @default.
• W2146245718 countsByYear W21462457182014 @default.
• W2146245718 countsByYear W21462457182015 @default.
• W2146245718 countsByYear W21462457182016 @default.
• W2146245718 countsByYear W21462457182017 @default.
• W2146245718 countsByYear W21462457182018 @default.
• W2146245718 countsByYear W21462457182019 @default.
• W2146245718 countsByYear W21462457182020 @default.
• W2146245718 countsByYear W21462457182023 @default.
• W2146245718 crossrefType "journal-article" @default.
• W2146245718 hasAuthorship W2146245718A5012032969 @default.
• W2146245718 hasAuthorship W2146245718A5028435359 @default.
• W2146245718 hasAuthorship W2146245718A5029873409 @default.
• W2146245718 hasAuthorship W2146245718A5057569401 @default.
• W2146245718 hasAuthorship W2146245718A5074358233 @default.
• W2146245718 hasAuthorship W2146245718A5078610004 @default.
• W2146245718 hasAuthorship W2146245718A5087903696 @default.
• W2146245718 hasBestOaLocation W21462457181 @default.
• W2146245718 hasConcept C104317684 @default.
• W2146245718 hasConcept C119054055 @default.
• W2146245718 hasConcept C127413603 @default.
• W2146245718 hasConcept C135763542 @default.
• W2146245718 hasConcept C153209595 @default.
• W2146245718 hasConcept C21200559 @default.
• W2146245718 hasConcept C24326235 @default.
• W2146245718 hasConcept C2910714999 @default.
• W2146245718 hasConcept C31467283 @default.
• W2146245718 hasConcept C41008148 @default.
• W2146245718 hasConcept C51679486 @default.
• W2146245718 hasConcept C54355233 @default.
• W2146245718 hasConcept C552990157 @default.
• W2146245718 hasConcept C70721500 @default.
• W2146245718 hasConcept C86803240 @default.
• W2146245718 hasConceptScore W2146245718C104317684 @default.
• W2146245718 hasConceptScore W2146245718C119054055 @default.
• W2146245718 hasConceptScore W2146245718C127413603 @default.
• W2146245718 hasConceptScore W2146245718C135763542 @default.
• W2146245718 hasConceptScore W2146245718C153209595 @default.
• W2146245718 hasConceptScore W2146245718C21200559 @default.
• W2146245718 hasConceptScore W2146245718C24326235 @default.
• W2146245718 hasConceptScore W2146245718C2910714999 @default.
• W2146245718 hasConceptScore W2146245718C31467283 @default.
• W2146245718 hasConceptScore W2146245718C41008148 @default.
• W2146245718 hasConceptScore W2146245718C51679486 @default.
• W2146245718 hasConceptScore W2146245718C54355233 @default.
• W2146245718 hasConceptScore W2146245718C552990157 @default.
• W2146245718 hasConceptScore W2146245718C70721500 @default.
• W2146245718 hasConceptScore W2146245718C86803240 @default.
• W2146245718 hasIssue "12" @default.
• W2146245718 hasLocation W21462457181 @default.
• W2146245718 hasLocation W21462457182 @default.
• W2146245718 hasLocation W21462457183 @default.

• next