These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

254 related articles for article (PubMed ID: 35948990)

  • 1. REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.
    Dolzhenko E; Weisburd B; Ibañez K; Rajan-Babu IS; Anyansi C; Bennett MF; Billingsley K; Carroll A; Clamons S; Danzi MC; Deshpande V; Ding J; Fazal S; Halman A; Jadhav B; Qiu Y; Richmond PA; Saunders CT; Scheffler K; van Vugt JJFA; Zwamborn RRAJ; ; Chong SS; Friedman JM; Tucci A; Rehm HL; Eberle MA
    Genome Med; 2022 Aug; 14(1):84. PubMed ID: 35948990
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.
    Zablotskaya A; Van Esch H; Verstrepen KJ; Froyen G; Vermeesch JR
    BMC Med Genomics; 2018 Dec; 11(1):123. PubMed ID: 30567555
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.
    Chintalaphani SR; Pineda SS; Deveson IW; Kumar KR
    Acta Neuropathol Commun; 2021 May; 9(1):98. PubMed ID: 34034831
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.
    Mitsuhashi S; Frith MC; Mizuguchi T; Miyatake S; Toyota T; Adachi H; Oma Y; Kino Y; Mitsuhashi H; Matsumoto N
    Genome Biol; 2019 Mar; 20(1):58. PubMed ID: 30890163
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Triplet-Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification.
    Rajan-Babu IS; Lian M; Chong SS
    Curr Protoc; 2022 May; 2(5):e427. PubMed ID: 35609145
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
    Ibañez K; Polke J; Hagelstrom RT; Dolzhenko E; Pasko D; Thomas ERA; Daugherty LC; Kasperaviciute D; Smith KR; ; Deans ZC; Hill S; Fowler T; Scott RH; Hardy J; Chinnery PF; Houlden H; Rendon A; Caulfield MJ; Eberle MA; Taft RJ; Tucci A;
    Lancet Neurol; 2022 Mar; 21(3):234-245. PubMed ID: 35182509
    [TBL] [Abstract][Full Text] [Related]  

  • 7. GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing.
    Ganesamoorthy D; Cao MD; Duarte T; Chen W; Coin L
    BMC Bioinformatics; 2018 Jul; 19(1):267. PubMed ID: 30012093
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.
    Liu T; Wang FS; Cheah FSH; Gu Y; Shaw M; Law HY; Tay SKH; Lee CG; Nelson DL; Gecz J; Chong SS
    J Mol Diagn; 2021 Aug; 23(8):941-951. PubMed ID: 34111553
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Detection of long repeat expansions from PCR-free whole-genome sequence data.
    Dolzhenko E; van Vugt JJFA; Shaw RJ; Bekritsky MA; van Blitterswijk M; Narzisi G; Ajay SS; Rajan V; Lajoie BR; Johnson NH; Kingsbury Z; Humphray SJ; Schellevis RD; Brands WJ; Baker M; Rademakers R; Kooyman M; Tazelaar GHP; van Es MA; McLaughlin R; Sproviero W; Shatunov A; Jones A; Al Khleifat A; Pittman A; Morgan S; Hardiman O; Al-Chalabi A; Shaw C; Smith B; Neo EJ; Morrison K; Shaw PJ; Reeves C; Winterkorn L; Wexler NS; ; Housman DE; Ng CW; Li AL; Taft RJ; van den Berg LH; Bentley DR; Veldink JH; Eberle MA
    Genome Res; 2017 Nov; 27(11):1895-1903. PubMed ID: 28887402
    [TBL] [Abstract][Full Text] [Related]  

  • 10. TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data.
    Bolognini D; Magi A; Benes V; Korbel JO; Rausch T
    Gigascience; 2020 Oct; 9(10):. PubMed ID: 33034633
    [TBL] [Abstract][Full Text] [Related]  

  • 11. REscan: inferring repeat expansions and structural variation in paired-end short read sequencing data.
    McLaughlin RL
    Bioinformatics; 2021 May; 37(6):871-872. PubMed ID: 32845284
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Finding long tandem repeats in long noisy reads.
    Morishita S; Ichikawa K; Myers EW
    Bioinformatics; 2021 May; 37(5):612-621. PubMed ID: 33031558
    [TBL] [Abstract][Full Text] [Related]  

  • 13. CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing.
    Wallace AD; Sasani TA; Swanier J; Gates BL; Greenland J; Pedersen BS; Varley KE; Quinlan AR
    PLoS One; 2021; 16(4):e0241253. PubMed ID: 33830997
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.
    Tankard RM; Bennett MF; Degorski P; Delatycki MB; Lockhart PJ; Bahlo M
    Am J Hum Genet; 2018 Dec; 103(6):858-873. PubMed ID: 30503517
    [TBL] [Abstract][Full Text] [Related]  

  • 15. ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
    Dolzhenko E; Bennett MF; Richmond PA; Trost B; Chen S; van Vugt JJFA; Nguyen C; Narzisi G; Gainullin VG; Gross AM; Lajoie BR; Taft RJ; Wasserman WW; Scherer SW; Veldink JH; Bentley DR; Yuen RKC; Bahlo M; Eberle MA
    Genome Biol; 2020 Apr; 21(1):102. PubMed ID: 32345345
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Noise-cancelling repeat finder: uncovering tandem repeats in error-prone long-read sequencing data.
    Harris RS; Cechova M; Makova KD
    Bioinformatics; 2019 Nov; 35(22):4809-4811. PubMed ID: 31290946
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
    Liang Q; Liu Y; Liu Y; Duan R; Meng W; Zhan J; Xia J; Mao A; Liang D; Wu L
    Clin Chem; 2022 Dec; 68(12):1529-1540. PubMed ID: 36171182
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Analysis of Tandem Repeat Expansions Using Long DNA Reads.
    Mitsuhashi S; Frith MC
    Methods Mol Biol; 2023; 2632():147-159. PubMed ID: 36781727
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Inferring short tandem repeat variation from paired-end short reads.
    Cao MD; Tasker E; Willadsen K; Imelfort M; Vishwanathan S; Sureshkumar S; Balasubramanian S; Bodén M
    Nucleic Acids Res; 2014 Feb; 42(3):e16. PubMed ID: 24353318
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
    Mizuguchi T; Toyota T; Miyatake S; Mitsuhashi S; Doi H; Kudo Y; Kishida H; Hayashi N; Tsuburaya RS; Kinoshita M; Fukuyama T; Fukuda H; Koshimizu E; Tsuchida N; Uchiyama Y; Fujita A; Takata A; Miyake N; Kato M; Tanaka F; Adachi H; Matsumoto N
    Brain; 2021 May; 144(4):1103-1117. PubMed ID: 33791773
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.