BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

218 related articles for article (PubMed ID: 33257779)

  • 1. Long-read trio sequencing of individuals with unsolved intellectual disability.
    Pauper M; Kucuk E; Wenger AM; Chakraborty S; Baybayan P; Kwint M; van der Sanden B; Nelen MR; Derks R; Brunner HG; Hoischen A; Vissers LELM; Gilissen C
    Eur J Hum Genet; 2021 Apr; 29(4):637-648. PubMed ID: 33257779
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Comprehensive de novo mutation discovery with HiFi long-read sequencing.
    Kucuk E; van der Sanden BPGH; O'Gorman L; Kwint M; Derks R; Wenger AM; Lambert C; Chakraborty S; Baybayan P; Rowell WJ; Brunner HG; Vissers LELM; Hoischen A; Gilissen C
    Genome Med; 2023 May; 15(1):34. PubMed ID: 37158973
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
    Merker JD; Wenger AM; Sneddon T; Grove M; Zappala Z; Fresard L; Waggott D; Utiramerur S; Hou Y; Smith KS; Montgomery SB; Wheeler M; Buchan JG; Lambert CC; Eng KS; Hickey L; Korlach J; Ford J; Ashley EA
    Genet Med; 2018 Jan; 20(1):159-163. PubMed ID: 28640241
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.
    Uguen K; Jubin C; Duffourd Y; Bardel C; Malan V; Dupont JM; El Khattabi L; Chatron N; Vitobello A; Rollat-Farnier PA; Baulard C; Lelorch M; Leduc A; Tisserant E; Tran Mau-Them F; Danjean V; Delepine M; Till M; Meyer V; Lyonnet S; Mosca-Boidron AL; Thevenon J; Faivre L; Thauvin-Robinet C; Schluth-Bolard C; Boland A; Olaso R; Callier P; Romana S; Deleuze JF; Sanlaville D
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1114. PubMed ID: 31985172
    [TBL] [Abstract][Full Text] [Related]  

  • 5. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
    Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid BM; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
    Genome Med; 2019 Nov; 11(1):68. PubMed ID: 31694722
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall.
    Harvey WT; Ebert P; Ebler J; Audano PA; Munson KM; Hoekzema K; Porubsky D; Beck CR; Marschall T; Garimella K; Eichler EE
    Genome Res; 2023 Dec; 33(12):2029-2040. PubMed ID: 38190646
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Advantages of long- and short-reads sequencing for the hybrid investigation of the
    Di Marco F; Spitaleri A; Battaglia S; Batignani V; Cabibbe AM; Cirillo DM
    Front Microbiol; 2023; 14():1104456. PubMed ID: 36819039
    [TBL] [Abstract][Full Text] [Related]  

  • 8. NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data.
    Fang L; Hu J; Wang D; Wang K
    BMC Bioinformatics; 2018 May; 19(1):180. PubMed ID: 29792160
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
    Tsuiko O; El Ayeb Y; Jatsenko T; Allemeersch J; Melotte C; Ding J; Debrock S; Peeraer K; Vanhie A; De Leener A; Pirard C; Kluyskens C; Denayer E; Legius E; Vermeesch JR; Brems H; Dimitriadou E
    Hum Reprod; 2023 Mar; 38(3):511-519. PubMed ID: 36625546
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Targeted long-read sequencing identifies missing disease-causing variation.
    Miller DE; Sulovari A; Wang T; Loucks H; Hoekzema K; Munson KM; Lewis AP; Fuerte EPA; Paschal CR; Walsh T; Thies J; Bennett JT; Glass I; Dipple KM; Patterson K; Bonkowski ES; Nelson Z; Squire A; Sikes M; Beckman E; Bennett RL; Earl D; Lee W; Allikmets R; Perlman SJ; Chow P; Hing AV; Wenger TL; Adam MP; Sun A; Lam C; Chang I; Zou X; Austin SL; Huggins E; Safi A; Iyengar AK; Reddy TE; Majoros WH; Allen AS; Crawford GE; Kishnani PS; ; King MC; Cherry T; Chong JX; Bamshad MJ; Nickerson DA; Mefford HC; Doherty D; Eichler EE
    Am J Hum Genet; 2021 Aug; 108(8):1436-1449. PubMed ID: 34216551
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A haplotype-aware de novo assembly of related individuals using pedigree sequence graph.
    Garg S; Aach J; Li H; Sebenius I; Durbin R; Church G
    Bioinformatics; 2020 Apr; 36(8):2385-2392. PubMed ID: 31860070
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
    Zahir FR; Mwenifumbo JC; Chun HE; Lim EL; Van Karnebeek CDM; Couse M; Mungall KL; Lee L; Makela N; Armstrong L; Boerkoel CF; Langlois SL; McGillivray BM; Jones SJM; Friedman JM; Marra MA
    BMC Genomics; 2017 May; 18(1):403. PubMed ID: 28539120
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
    Damián A; Núñez-Moreno G; Jubin C; Tamayo A; de Alba MR; Villaverde C; Fund C; Delépine M; Leduc A; Deleuze JF; Mínguez P; Ayuso C; Corton M
    Hum Genomics; 2023 Jun; 17(1):45. PubMed ID: 37269011
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Robust Benchmark Structural Variant Calls of An Asian Using State-of-the-art Long-read Sequencing Technologies.
    Du X; Li L; Liang F; Liu S; Zhang W; Sun S; Sun Y; Fan F; Wang L; Liang X; Qiu W; Fan G; Wang O; Yang W; Zhang J; Xiao Y; Wang Y; Wang D; Qu S; Chen F; Huang J
    Genomics Proteomics Bioinformatics; 2022 Feb; 20(1):192-204. PubMed ID: 33662625
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
    Gustafson JA; Gibson SB; Damaraju N; Zalusky MP; Hoekzema K; Twesigomwe D; Yang L; Snead AA; Richmond PA; De Coster W; Olson ND; Guarracino A; Li Q; Miller AL; Goffena J; Anderson Z; Storz SH; Ward SA; Sinha M; Gonzaga-Jauregui C; Clarke WE; Basile AO; Corvelo A; Reeves C; Helland A; Musunuri RL; Revsine M; Patterson KE; Paschal CR; Zakarian C; Goodwin S; Jensen TD; Robb E; ; ; ; McCombie WR; Sedlazeck FJ; Zook JM; Montgomery SB; Garrison E; Kolmogorov M; Schatz MC; McLaughlin RN; Dashnow H; Zody MC; Loose M; Jain M; Eichler EE; Miller DE
    medRxiv; 2024 Mar; ():. PubMed ID: 38496498
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes.
    Fatima N; Petri A; Gyllensten U; Feuk L; Ameur A
    Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33266238
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.
    de Boer E; Yaldiz B; Denommé-Pichon AS; Matalonga L; Laurie S; ;
    Eur J Med Genet; 2022 Jan; 65(1):104402. PubMed ID: 34863918
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall.
    Harvey WT; Ebert P; Ebler J; Audano PA; Munson KM; Hoekzema K; Porubsky D; Beck CR; Marschall T; Garimella K; Eichler EE
    bioRxiv; 2023 May; ():. PubMed ID: 37205567
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Comparison of structural variants detected by PacBio-CLR and ONT sequencing in pear.
    Liu Y; Zhang M; Wang R; Li B; Jiang Y; Sun M; Chang Y; Wu J
    BMC Genomics; 2022 Dec; 23(1):830. PubMed ID: 36517766
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.