FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3215694637> ?p ?o ?g. }

• W3215694637 abstract "Abstract Expansions of short tandem repeats (STRs) cause dozens of rare Mendelian diseases. However, STR expansions, especially those arising from repeats not present in the reference genome, are challenging to detect from short-read sequencing data. Such “novel” STRs include new repeat units occurring at known STR loci, or entirely new STR loci where the sequence is absent from the reference genome. A primary cause of difficulty detecting STR expansions is that reads arising from STR expansions are frequently mismapped or unmapped. To address this challenge, we have developed STRling, a new STR detection algorithm that counts k-mers (short DNA sequences of length k) in DNA sequencing reads, to efficiently recover reads that inform the presence and size of STR expansions. As a result, STRling can call expansions at both known and novel STR loci. STRling has a sensitivity of 83% for 14 known STR disease loci, including the novel STRs that cause CANVAS and DBQD2. It is the first method to resolve the position of novel STR expansions to base pair accuracy. Such accuracy is essential to interpreting the consequence of each expansion. STRling has an estimated 0.078 false discovery rate for known pathogenic loci in unaffected individuals and a 0.20 false discovery rate for genome-wide loci in unaffected individuals when using variants called from long-read data as truth. STRling is fast, scalable on cloud computing, open-source, and freely available at https://github.com/quinlan-lab/STRling ." @default.
• W3215694637 created "2021-12-06" @default.
• W3215694637 creator A5005439778 @default.
• W3215694637 creator A5026308135 @default.
• W3215694637 creator A5030554728 @default.
• W3215694637 creator A5033335450 @default.
• W3215694637 creator A5033872267 @default.
• W3215694637 creator A5035365079 @default.
• W3215694637 creator A5050071654 @default.
• W3215694637 creator A5058072349 @default.
• W3215694637 creator A5058376369 @default.
• W3215694637 creator A5061276722 @default.
• W3215694637 creator A5067659877 @default.
• W3215694637 creator A5079803961 @default.
• W3215694637 creator A5084011294 @default.
• W3215694637 creator A5090262911 @default.
• W3215694637 date "2021-11-20" @default.
• W3215694637 modified "2023-09-26" @default.
• W3215694637 title "STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci" @default.
• W3215694637 cites W1981981738 @default.
• W3215694637 cites W2003398699 @default.
• W3215694637 cites W2021828702 @default.
• W3215694637 cites W2047846317 @default.
• W3215694637 cites W2097438318 @default.
• W3215694637 cites W2110065044 @default.
• W3215694637 cites W2122707695 @default.
• W3215694637 cites W2149459456 @default.
• W3215694637 cites W2159075303 @default.
• W3215694637 cites W2181523240 @default.
• W3215694637 cites W2342249984 @default.
• W3215694637 cites W2586994065 @default.
• W3215694637 cites W2605897695 @default.
• W3215694637 cites W2609153336 @default.
• W3215694637 cites W2765283293 @default.
• W3215694637 cites W2786119759 @default.
• W3215694637 cites W2790182135 @default.
• W3215694637 cites W2805193585 @default.
• W3215694637 cites W2897049009 @default.
• W3215694637 cites W2902005673 @default.
• W3215694637 cites W2904037705 @default.
• W3215694637 cites W2920983736 @default.
• W3215694637 cites W2933273758 @default.
• W3215694637 cites W2949838248 @default.
• W3215694637 cites W2950638389 @default.
• W3215694637 cites W2951000946 @default.
• W3215694637 cites W2951541096 @default.
• W3215694637 cites W2952269164 @default.
• W3215694637 cites W2963186762 @default.
• W3215694637 cites W3019597618 @default.
• W3215694637 cites W3029661147 @default.
• W3215694637 cites W3099878876 @default.
• W3215694637 cites W3103145119 @default.
• W3215694637 cites W3147352572 @default.
• W3215694637 cites W3180381598 @default.
• W3215694637 doi "https://doi.org/10.1101/2021.11.18.469113" @default.
• W3215694637 hasPublicationYear "2021" @default.
• W3215694637 type Work @default.
• W3215694637 sameAs 3215694637 @default.
• W3215694637 citedByCount "1" @default.
• W3215694637 countsByYear W32156946372022 @default.
• W3215694637 crossrefType "posted-content" @default.
• W3215694637 hasAuthorship W3215694637A5005439778 @default.
• W3215694637 hasAuthorship W3215694637A5026308135 @default.
• W3215694637 hasAuthorship W3215694637A5030554728 @default.
• W3215694637 hasAuthorship W3215694637A5033335450 @default.
• W3215694637 hasAuthorship W3215694637A5033872267 @default.
• W3215694637 hasAuthorship W3215694637A5035365079 @default.
• W3215694637 hasAuthorship W3215694637A5050071654 @default.
• W3215694637 hasAuthorship W3215694637A5058072349 @default.
• W3215694637 hasAuthorship W3215694637A5058376369 @default.
• W3215694637 hasAuthorship W3215694637A5061276722 @default.
• W3215694637 hasAuthorship W3215694637A5067659877 @default.
• W3215694637 hasAuthorship W3215694637A5079803961 @default.
• W3215694637 hasAuthorship W3215694637A5084011294 @default.
• W3215694637 hasAuthorship W3215694637A5090262911 @default.
• W3215694637 hasBestOaLocation W32156946371 @default.
• W3215694637 hasConcept C104317684 @default.
• W3215694637 hasConcept C141231307 @default.
• W3215694637 hasConcept C180754005 @default.
• W3215694637 hasConcept C192953774 @default.
• W3215694637 hasConcept C197077220 @default.
• W3215694637 hasConcept C27149982 @default.
• W3215694637 hasConcept C51679486 @default.
• W3215694637 hasConcept C54355233 @default.
• W3215694637 hasConcept C552990157 @default.
• W3215694637 hasConcept C61320498 @default.
• W3215694637 hasConcept C70721500 @default.
• W3215694637 hasConcept C86803240 @default.
• W3215694637 hasConceptScore W3215694637C104317684 @default.
• W3215694637 hasConceptScore W3215694637C141231307 @default.
• W3215694637 hasConceptScore W3215694637C180754005 @default.
• W3215694637 hasConceptScore W3215694637C192953774 @default.
• W3215694637 hasConceptScore W3215694637C197077220 @default.
• W3215694637 hasConceptScore W3215694637C27149982 @default.
• W3215694637 hasConceptScore W3215694637C51679486 @default.
• W3215694637 hasConceptScore W3215694637C54355233 @default.
• W3215694637 hasConceptScore W3215694637C552990157 @default.
• W3215694637 hasConceptScore W3215694637C61320498 @default.
• W3215694637 hasConceptScore W3215694637C70721500 @default.
• W3215694637 hasConceptScore W3215694637C86803240 @default.

• next