BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 36163278)

  • 1. Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements.
    Luquette LJ; Miller MB; Zhou Z; Bohrson CL; Zhao Y; Jin H; Gulhan D; Ganz J; Bizzotto S; Kirkham S; Hochepied T; Libert C; Galor A; Kim J; Lodato MA; Garaycoechea JI; Gawad C; West J; Walsh CA; Park PJ
    Nat Genet; 2022 Oct; 54(10):1564-1571. PubMed ID: 36163278
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Single-neuron whole genome sequencing identifies increased somatic mutation burden in Alzheimer's disease related genes.
    Li Z; Min S; Alliey-Rodriguez N; Giase G; Cheng L; Craig DW; Faulkner GJ; Asif H; Liu C; Gershon ES
    Neurobiol Aging; 2023 Mar; 123():222-232. PubMed ID: 36599749
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Discovering single nucleotide variants and indels from bulk and single-cell ATAC-seq.
    Massarat AR; Sen A; Jaureguy J; Tyndale ST; Fu Y; Erikson G; McVicker G
    Nucleic Acids Res; 2021 Aug; 49(14):7986-7994. PubMed ID: 34313779
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Multi-nucleotide de novo Mutations in Humans.
    Besenbacher S; Sulem P; Helgason A; Helgason H; Kristjansson H; Jonasdottir A; Jonasdottir A; Magnusson OT; Thorsteinsdottir U; Masson G; Kong A; Gudbjartsson DF; Stefansson K
    PLoS Genet; 2016 Nov; 12(11):e1006315. PubMed ID: 27846220
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. SNVSniffer: an integrated caller for germline and somatic single-nucleotide and indel mutations.
    Liu Y; Loewer M; Aluru S; Schmidt B
    BMC Syst Biol; 2016 Aug; 10 Suppl 2(Suppl 2):47. PubMed ID: 27489955
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ensemble-Based Somatic Mutation Calling in Cancer Genomes.
    Huang W; Guo YA; Chang MM; Skanderup AJ
    Methods Mol Biol; 2020; 2120():37-46. PubMed ID: 32124310
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes.
    Montgomery SB; Goode DL; Kvikstad E; Albers CA; Zhang ZD; Mu XJ; Ananda G; Howie B; Karczewski KJ; Smith KS; Anaya V; Richardson R; Davis J; ; MacArthur DG; Sidow A; Duret L; Gerstein M; Makova KD; Marchini J; McVean G; Lunter G
    Genome Res; 2013 May; 23(5):749-61. PubMed ID: 23478400
    [TBL] [Abstract][Full Text] [Related]  

  • 12. SNES: single nucleus exome sequencing.
    Leung ML; Wang Y; Waters J; Navin NE
    Genome Biol; 2015 Mar; 16(1):55. PubMed ID: 25853327
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox.
    Middelkamp S; Manders F; Peci F; van Roosmalen MJ; González DM; Bertrums EJM; van der Werf I; Derks LLM; Groenen NM; Verheul M; Trabut L; Pleguezuelos-Manzano C; Brandsma AM; Antoniou E; Reinhardt D; Bierings M; Belderbos ME; van Boxtel R
    Cell Genom; 2023 Sep; 3(9):100389. PubMed ID: 37719152
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. SiNVICT: ultra-sensitive detection of single nucleotide variants and indels in circulating tumour DNA.
    Kockan C; Hach F; Sarrafi I; Bell RH; McConeghy B; Beja K; Haegert A; Wyatt AW; Volik SV; Chi KN; Collins CC; Sahinalp SC
    Bioinformatics; 2017 Jan; 33(1):26-34. PubMed ID: 27531099
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
    Steyaert W; Haer-Wigman L; Pfundt R; Hellebrekers D; Steehouwer M; Hampstead J; de Boer E; Stegmann A; Yntema H; Kamsteeg EJ; Brunner H; Hoischen A; Gilissen C
    Nat Commun; 2023 Oct; 14(1):6845. PubMed ID: 37891200
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comprehensive somatic genome alterations of urachal carcinoma.
    Lee S; Lee J; Sim SH; Lee Y; Moon KC; Lee C; Park WY; Kim NK; Lee SH; Lee H
    J Med Genet; 2017 Aug; 54(8):572-578. PubMed ID: 28348108
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Indel variant analysis of short-read sequencing data with Scalpel.
    Fang H; Bergmann EA; Arora K; Vacic V; Zody MC; Iossifov I; O'Rawe JA; Wu Y; Jimenez Barron LT; Rosenbaum J; Ronemus M; Lee YH; Wang Z; Dikoglu E; Jobanputra V; Lyon GJ; Wigler M; Schatz MC; Narzisi G
    Nat Protoc; 2016 Dec; 11(12):2529-2548. PubMed ID: 27854363
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An integrated Asian human SNV and indel benchmark established using multiple sequencing methods.
    Huang C; Shao L; Qu S; Rao J; Cheng T; Cao Z; Liu S; Hu J; Liang X; Shang L; Chen Y; Liang Z; Zhang J; Chen P; Luo D; Zhu A; Yu T; Zhang W; Fan G; Chen F; Huang J
    Sci Rep; 2020 Jun; 10(1):9821. PubMed ID: 32555294
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.