BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (PubMed ID: 29144510)

  • 1. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
    Sanghvi RV; Buhay CJ; Powell BC; Tsai EA; Dorschner MO; Hong CS; Lebo MS; Sasson A; Hanna DS; McGee S; Bowling KM; Cooper GM; Gray DE; Lonigro RJ; Dunford A; Brennan CA; Cibulskis C; Walker K; Carneiro MO; Sailsbery J; Hindorff LA; Robinson DR; Santani A; Sarmady M; Rehm HL; Biesecker LG; Nickerson DA; Hutter CM; Garraway L; Muzny DM; Wagle N;
    Genet Med; 2018 Aug; 20(8):855-866. PubMed ID: 29144510
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An efficient and tunable parameter to improve variant calling for whole genome and exome sequencing data.
    Ahn YJ; Markkandan K; Baek IP; Mun S; Lee W; Kim HS; Han K
    Genes Genomics; 2018 Jan; 40(1):39-47. PubMed ID: 29892897
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods.
    Trudsø LC; Andersen JD; Jacobsen SB; Christiansen SL; Congost-Teixidor C; Kampmann ML; Morling N
    PLoS One; 2020; 15(9):e0239850. PubMed ID: 32986766
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Achieving high-sensitivity for clinical applications using augmented exome sequencing.
    Patwardhan A; Harris J; Leng N; Bartha G; Church DM; Luo S; Haudenschild C; Pratt M; Zook J; Salit M; Tirch J; Morra M; Chervitz S; Li M; Clark M; Garcia S; Chandratillake G; Kirk S; Ashley E; Snyder M; Altman R; Bustamante C; Butte AJ; West J; Chen R
    Genome Med; 2015; 7(1):71. PubMed ID: 26269718
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole exome sequencing in the rat.
    Foley JF; Phadke DP; Hardy O; Hardy S; Miller V; Madan A; Howard K; Kruse K; Lord C; Ramaiahgari S; Solomon GG; Shah RR; Pandiri AR; Herbert RA; Sills RC; Merrick BA
    BMC Genomics; 2018 Jun; 19(1):487. PubMed ID: 29925311
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mosdepth: quick coverage calculation for genomes and exomes.
    Pedersen BS; Quinlan AR
    Bioinformatics; 2018 Mar; 34(5):867-868. PubMed ID: 29096012
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Bioinformatics Analysis of Whole Exome Sequencing Data.
    Ulintz PJ; Wu W; Gates CM
    Methods Mol Biol; 2019; 1881():277-318. PubMed ID: 30350213
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage.
    Barbitoff YA; Polev DE; Glotov AS; Serebryakova EA; Shcherbakova IV; Kiselev AM; Kostareva AA; Glotov OS; Predeus AV
    Sci Rep; 2020 Feb; 10(1):2057. PubMed ID: 32029882
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.
    Yauy K; Van Goethem C; Pégeot H; Baux D; Guignard T; Thèze C; Ardouin O; Roux AF; Koenig M; Bergougnoux A; Cossée M
    Int J Mol Sci; 2023 Apr; 24(8):. PubMed ID: 37108493
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Enhanced whole exome sequencing by higher DNA insert lengths.
    Pommerenke C; Geffers R; Bunk B; Bhuju S; Eberth S; Drexler HG; Quentmeier H
    BMC Genomics; 2016 May; 17():399. PubMed ID: 27225215
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.
    Saeidian AH; Vahidnezhad H; Youssefian L; Sotudeh S; Sargazi M; Zeinali S; Uitto J
    Mol Genet Genomic Med; 2019 Nov; 7(11):e975. PubMed ID: 31560841
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.
    Wang Q; Shashikant CS; Jensen M; Altman NS; Girirajan S
    Sci Rep; 2017 Apr; 7(1):885. PubMed ID: 28408746
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genome-scale sequencing to identify genes involved in Mendelian disorders.
    Markello TC; Adams DR
    Curr Protoc Hum Genet; 2013 Oct; 79():6.13.1-6.13.19. PubMed ID: 24510651
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Comparative analysis of de novo assemblers for variation discovery in personal genomes.
    Tian S; Yan H; Klee EW; Kalmbach M; Slager SL
    Brief Bioinform; 2018 Sep; 19(5):893-904. PubMed ID: 28407084
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.
    Wang J; Wang Y; Wang L; Chen WY; Sheng M
    BMC Med Genomics; 2020 May; 13(1):70. PubMed ID: 32429945
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genome Sequencing and Analysis Methods in Chronic Lymphocytic Leukemia.
    Quesada V; Araujo-Voces M; Pérez-Silva JG; Velasco G; López-Otín C
    Methods Mol Biol; 2019; 1881():319-325. PubMed ID: 30350214
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Impact of post-alignment processing in variant discovery from whole exome data.
    Tian S; Yan H; Kalmbach M; Slager SL
    BMC Bioinformatics; 2016 Oct; 17(1):403. PubMed ID: 27716037
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data.
    Webster TH; Couse M; Grande BM; Karlins E; Phung TN; Richmond PA; Whitford W; Wilson MA
    Gigascience; 2019 Jul; 8(7):. PubMed ID: 31289836
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.
    Lelieveld SH; Spielmann M; Mundlos S; Veltman JA; Gilissen C
    Hum Mutat; 2015 Aug; 36(8):815-22. PubMed ID: 25973577
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.