BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

691 related articles for article (PubMed ID: 27903644)

  • 1. A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.
    Eberle MA; Fritzilas E; Krusche P; Källberg M; Moore BL; Bekritsky MA; Iqbal Z; Chuang HY; Humphray SJ; Halpern AL; Kruglyak S; Margulies EH; McVean G; Bentley DR
    Genome Res; 2017 Jan; 27(1):157-164. PubMed ID: 27903644
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data.
    Kim BY; Park JH; Jo HY; Koo SK; Park MH
    PLoS One; 2017; 12(8):e0182272. PubMed ID: 28792971
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
    Belkadi A; Bolze A; Itan Y; Cobat A; Vincent QB; Antipenko A; Shang L; Boisson B; Casanova JL; Abel L
    Proc Natl Acad Sci U S A; 2015 Apr; 112(17):5473-8. PubMed ID: 25827230
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.
    Rančelis T; Arasimavičius J; Ambrozaitytė L; Kavaliauskienė I; Domarkienė I; Karčiauskaitė D; Kučinskienė ZA; Kučinskas V
    Genet Res (Camb); 2017 Aug; 99():e6. PubMed ID: 28851476
    [TBL] [Abstract][Full Text] [Related]  

  • 5. mInDel: a high-throughput and efficient pipeline for genome-wide InDel marker development.
    Lv Y; Liu Y; Zhao H
    BMC Genomics; 2016 Apr; 17():290. PubMed ID: 27079510
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling.
    Zhang G; Wang J; Yang J; Li W; Deng Y; Li J; Huang J; Hu S; Zhang B
    BMC Genomics; 2015 Aug; 16(1):581. PubMed ID: 26242175
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Tool evaluation for the detection of variably sized indels from next generation whole genome and targeted sequencing data.
    Wang N; Lysenkov V; Orte K; Kairisto V; Aakko J; Khan S; Elo LL
    PLoS Comput Biol; 2022 Feb; 18(2):e1009269. PubMed ID: 35176018
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Performance comparison of whole-genome sequencing platforms.
    Lam HY; Clark MJ; Chen R; Chen R; Natsoulis G; O'Huallachain M; Dewey FE; Habegger L; Ashley EA; Gerstein MB; Butte AJ; Ji HP; Snyder M
    Nat Biotechnol; 2011 Dec; 30(1):78-82. PubMed ID: 22178993
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A global reference for human genetic variation.
    ; Auton A; Brooks LD; Durbin RM; Garrison EP; Kang HM; Korbel JO; Marchini JL; McCarthy S; McVean GA; Abecasis GR
    Nature; 2015 Oct; 526(7571):68-74. PubMed ID: 26432245
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of indels in next-generation sequencing data.
    Ratan A; Olson TL; Loughran TP; Miller W
    BMC Bioinformatics; 2015 Feb; 16(1):42. PubMed ID: 25879703
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data.
    Kumaran M; Subramanian U; Devarajan B
    BMC Bioinformatics; 2019 Jun; 20(1):342. PubMed ID: 31208315
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference.
    Cornish A; Guda C
    Biomed Res Int; 2015; 2015():456479. PubMed ID: 26539496
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Evaluation of variant identification methods for whole genome sequencing data in dairy cattle.
    Baes CF; Dolezal MA; Koltes JE; Bapst B; Fritz-Waters E; Jansen S; Flury C; Signer-Hasler H; Stricker C; Fernando R; Fries R; Moll J; Garrick DJ; Reecy JM; Gredler B
    BMC Genomics; 2014 Nov; 15(1):948. PubMed ID: 25361890
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Challenges in exome analysis by LifeScope and its alternative computational pipelines.
    Pranckevičiene E; Rančelis T; Pranculis A; Kučinskas V
    BMC Res Notes; 2015 Sep; 8():421. PubMed ID: 26346699
    [TBL] [Abstract][Full Text] [Related]  

  • 15. svclassify: a method to establish benchmark structural variant calls.
    Parikh H; Mohiyuddin M; Lam HY; Iyer H; Chen D; Pratt M; Bartha G; Spies N; Losert W; Zook JM; Salit M
    BMC Genomics; 2016 Jan; 17():64. PubMed ID: 26772178
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Precise detection of de novo single nucleotide variants in human genomes.
    Gómez-Romero L; Palacios-Flores K; Reyes J; García D; Boege M; Dávila G; Flores M; Schatz MC; Palacios R
    Proc Natl Acad Sci U S A; 2018 May; 115(21):5516-5521. PubMed ID: 29735690
    [TBL] [Abstract][Full Text] [Related]  

  • 17. INDELseek: detection of complex insertions and deletions from next-generation sequencing data.
    Au CH; Leung AY; Kwong A; Chan TL; Ma ES
    BMC Genomics; 2017 Jan; 18(1):16. PubMed ID: 28056804
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data.
    Cleary JG; Braithwaite R; Gaastra K; Hilbush BS; Inglis S; Irvine SA; Jackson A; Littin R; Nohzadeh-Malakshah S; Rathod M; Ware D; Trigg L; De La Vega FM
    J Comput Biol; 2014 Jun; 21(6):405-19. PubMed ID: 24874280
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.
    Zook JM; Chapman B; Wang J; Mittelman D; Hofmann O; Hide W; Salit M
    Nat Biotechnol; 2014 Mar; 32(3):246-51. PubMed ID: 24531798
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Amplicon Indel Hunter Is a Novel Bioinformatics Tool to Detect Large Somatic Insertion/Deletion Mutations in Amplicon-Based Next-Generation Sequencing Data.
    Kadri S; Zhen CJ; Wurst MN; Long BC; Jiang ZF; Wang YL; Furtado LV; Segal JP
    J Mol Diagn; 2015 Nov; 17(6):635-43. PubMed ID: 26319364
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 35.