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 *

234 related articles for article (PubMed ID: 39138168)

  • 1. VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencing.
    Luo C; Liu YH; Zhou XM
    Nat Commun; 2024 Aug; 15(1):6956. PubMed ID: 39138168
    [TBL] [Abstract][Full Text] [Related]  

  • 2. VISTA: an integrated framework for structural variant discovery.
    Sarwal V; Lee S; Yang J; Sankararaman S; Chaisson M; Eskin E; Mangul S
    Brief Bioinform; 2024 Jul; 25(5):. PubMed ID: 39297879
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Tradeoffs in alignment and assembly-based methods for structural variant detection with long-read sequencing data.
    Liu YH; Luo C; Golding SG; Ioffe JB; Zhou XM
    Nat Commun; 2024 Mar; 15(1):2447. PubMed ID: 38503752
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing.
    Edge P; Bansal V
    Nat Commun; 2019 Oct; 10(1):4660. PubMed ID: 31604920
    [TBL] [Abstract][Full Text] [Related]  

  • 5. HySA: a Hybrid Structural variant Assembly approach using next-generation and single-molecule sequencing technologies.
    Fan X; Chaisson M; Nakhleh L; Chen K
    Genome Res; 2017 May; 27(5):793-800. PubMed ID: 28104618
    [TBL] [Abstract][Full Text] [Related]  

  • 6. phasebook: haplotype-aware de novo assembly of diploid genomes from long reads.
    Luo X; Kang X; Schönhuth A
    Genome Biol; 2021 Oct; 22(1):299. PubMed ID: 34706745
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SVDSS: structural variation discovery in hard-to-call genomic regions using sample-specific strings from accurate long reads.
    Denti L; Khorsand P; Bonizzoni P; Hormozdiari F; Chikhi R
    Nat Methods; 2023 Apr; 20(4):550-558. PubMed ID: 36550274
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A large structural variant collection in Holstein cattle and associated database for variant discovery, characterization, and application.
    Grant JR; Herman EK; Barlow LD; Miglior F; Schenkel FS; Baes CF; Stothard P
    BMC Genomics; 2024 Sep; 25(1):903. PubMed ID: 39350025
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Assessing structural variation in a personal genome-towards a human reference diploid genome.
    English AC; Salerno WJ; Hampton OA; Gonzaga-Jauregui C; Ambreth S; Ritter DI; Beck CR; Davis CF; Dahdouli M; Ma S; Carroll A; Veeraraghavan N; Bruestle J; Drees B; Hastie A; Lam ET; White S; Mishra P; Wang M; Han Y; Zhang F; Stankiewicz P; Wheeler DA; Reid JG; Muzny DM; Rogers J; Sabo A; Worley KC; Lupski JR; Boerwinkle E; Gibbs RA
    BMC Genomics; 2015 Apr; 16(1):286. PubMed ID: 25886820
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads.
    Zhou X; Zhang L; Weng Z; Dill DL; Sidow A
    Nat Commun; 2021 Feb; 12(1):1077. PubMed ID: 33597536
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SvABA: genome-wide detection of structural variants and indels by local assembly.
    Wala JA; Bandopadhayay P; Greenwald NF; O'Rourke R; Sharpe T; Stewart C; Schumacher S; Li Y; Weischenfeldt J; Yao X; Nusbaum C; Campbell P; Getz G; Meyerson M; Zhang CZ; Imielinski M; Beroukhim R
    Genome Res; 2018 Apr; 28(4):581-591. PubMed ID: 29535149
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Assembly and diploid architecture of an individual human genome via single-molecule technologies.
    Pendleton M; Sebra R; Pang AW; Ummat A; Franzen O; Rausch T; Stütz AM; Stedman W; Anantharaman T; Hastie A; Dai H; Fritz MH; Cao H; Cohain A; Deikus G; Durrett RE; Blanchard SC; Altman R; Chin CS; Guo Y; Paxinos EE; Korbel JO; Darnell RB; McCombie WR; Kwok PY; Mason CE; Schadt EE; Bashir A
    Nat Methods; 2015 Aug; 12(8):780-6. PubMed ID: 26121404
    [TBL] [Abstract][Full Text] [Related]  

  • 13. DELLY: structural variant discovery by integrated paired-end and split-read analysis.
    Rausch T; Zichner T; Schlattl A; Stütz AM; Benes V; Korbel JO
    Bioinformatics; 2012 Sep; 28(18):i333-i339. PubMed ID: 22962449
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Haplotyping-Assisted Diploid Assembly and Variant Detection with Linked Reads.
    Hu Y; Yang C; Zhang L; Zhou X
    Methods Mol Biol; 2023; 2590():161-182. PubMed ID: 36335499
    [TBL] [Abstract][Full Text] [Related]  

  • 15. nanotatoR: a tool for enhanced annotation of genomic structural variants.
    Bhattacharya S; Barseghyan H; Délot EC; Vilain E
    BMC Genomics; 2021 Jan; 22(1):10. PubMed ID: 33407088
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.
    Pei Y; Tanguy M; Giess A; Dixit A; Wilson LC; Gibbons RJ; Twigg SRF; Elgar G; Wilkie AOM
    Genes (Basel); 2024 Jul; 15(7):. PubMed ID: 39062704
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comprehensive evaluation of structural variant genotyping methods based on long-read sequencing data.
    Duan X; Pan M; Fan S
    BMC Genomics; 2022 Apr; 23(1):324. PubMed ID: 35461238
    [TBL] [Abstract][Full Text] [Related]  

  • 18. GGTyper: genotyping complex structural variants using short-read sequencing data.
    Mirus T; Lohmayer R; Döhring C; Halldórsson BV; Kehr B
    Bioinformatics; 2024 Sep; 40(Suppl 2):ii11-ii19. PubMed ID: 39230689
    [TBL] [Abstract][Full Text] [Related]  

  • 19. RAPTR-SV: a hybrid method for the detection of structural variants.
    Bickhart DM; Hutchison JL; Xu L; Schnabel RD; Taylor JF; Reecy JM; Schroeder S; Van Tassell CP; Sonstegard TS; Liu GE
    Bioinformatics; 2015 Jul; 31(13):2084-90. PubMed ID: 25686638
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads.
    Shafin K; Pesout T; Chang PC; Nattestad M; Kolesnikov A; Goel S; Baid G; Kolmogorov M; Eizenga JM; Miga KH; Carnevali P; Jain M; Carroll A; Paten B
    Nat Methods; 2021 Nov; 18(11):1322-1332. PubMed ID: 34725481
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.