BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

229 related articles for article (PubMed ID: 20838461)

  • 1. The characterization of twenty sequenced human genomes.
    Pelak K; Shianna KV; Ge D; Maia JM; Zhu M; Smith JP; Cirulli ET; Fellay J; Dickson SP; Gumbs CE; Heinzen EL; Need AC; Ruzzo EK; Singh A; Campbell CR; Hong LK; Lornsen KA; McKenzie AM; Sobreira NL; Hoover-Fong JE; Milner JD; Ottman R; Haynes BF; Goedert JJ; Goldstein DB
    PLoS Genet; 2010 Sep; 6(9):e1001111. PubMed ID: 20838461
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.
    Shen H; Li J; Zhang J; Xu C; Jiang Y; Wu Z; Zhao F; Liao L; Chen J; Lin Y; Tian Q; Papasian CJ; Deng HW
    PLoS One; 2013; 8(4):e59494. PubMed ID: 23577066
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Targeted capture and massively parallel sequencing of 12 human exomes.
    Ng SB; Turner EH; Robertson PD; Flygare SD; Bigham AW; Lee C; Shaffer T; Wong M; Bhattacharjee A; Eichler EE; Bamshad M; Nickerson DA; Shendure J
    Nature; 2009 Sep; 461(7261):272-6. PubMed ID: 19684571
    [TBL] [Abstract][Full Text] [Related]  

  • 4. KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
    Kim J; Weber JA; Jho S; Jang J; Jun J; Cho YS; Kim HM; Kim H; Kim Y; Chung O; Kim CG; Lee H; Kim BC; Han K; Koh I; Chae KS; Lee S; Edwards JS; Bhak J
    Sci Rep; 2018 Apr; 8(1):5677. PubMed ID: 29618732
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Towards a comprehensive structural variation map of an individual human genome.
    Pang AW; MacDonald JR; Pinto D; Wei J; Rafiq MA; Conrad DF; Park H; Hurles ME; Lee C; Venter JC; Kirkness EF; Levy S; Feuk L; Scherer SW
    Genome Biol; 2010; 11(5):R52. PubMed ID: 20482838
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Copy number and sequence variants implicate APBA2 as an autism candidate gene.
    Babatz TD; Kumar RA; Sudi J; Dobyns WB; Christian SL
    Autism Res; 2009 Dec; 2(6):359-64. PubMed ID: 20029827
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The functional spectrum of low-frequency coding variation.
    Marth GT; Yu F; Indap AR; Garimella K; Gravel S; Leong WF; Tyler-Smith C; Bainbridge M; Blackwell T; Zheng-Bradley X; Chen Y; Challis D; Clarke L; Ball EV; Cibulskis K; Cooper DN; Fulton B; Hartl C; Koboldt D; Muzny D; Smith R; Sougnez C; Stewart C; Ward A; Yu J; Xue Y; Altshuler D; Bustamante CD; Clark AG; Daly M; DePristo M; Flicek P; Gabriel S; Mardis E; Palotie A; Gibbs R;
    Genome Biol; 2011 Sep; 12(9):R84. PubMed ID: 21917140
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes.
    Das A; Panitz F; Gregersen VR; Bendixen C; Holm LE
    BMC Genomics; 2015 Dec; 16():1043. PubMed ID: 26645365
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The sequences of 150,119 genomes in the UK Biobank.
    Halldorsson BV; Eggertsson HP; Moore KHS; Hauswedell H; Eiriksson O; Ulfarsson MO; Palsson G; Hardarson MT; Oddsson A; Jensson BO; Kristmundsdottir S; Sigurpalsdottir BD; Stefansson OA; Beyter D; Holley G; Tragante V; Gylfason A; Olason PI; Zink F; Asgeirsdottir M; Sverrisson ST; Sigurdsson B; Gudjonsson SA; Sigurdsson GT; Halldorsson GH; Sveinbjornsson G; Norland K; Styrkarsdottir U; Magnusdottir DN; Snorradottir S; Kristinsson K; Sobech E; Jonsson H; Geirsson AJ; Olafsson I; Jonsson P; Pedersen OB; Erikstrup C; Brunak S; Ostrowski SR; ; Thorleifsson G; Jonsson F; Melsted P; Jonsdottir I; Rafnar T; Holm H; Stefansson H; Saemundsdottir J; Gudbjartsson DF; Magnusson OT; Masson G; Thorsteinsdottir U; Helgason A; Jonsson H; Sulem P; Stefansson K
    Nature; 2022 Jul; 607(7920):732-740. PubMed ID: 35859178
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Mapping copy number variation by population-scale genome sequencing.
    Mills RE; Walter K; Stewart C; Handsaker RE; Chen K; Alkan C; Abyzov A; Yoon SC; Ye K; Cheetham RK; Chinwalla A; Conrad DF; Fu Y; Grubert F; Hajirasouliha I; Hormozdiari F; Iakoucheva LM; Iqbal Z; Kang S; Kidd JM; Konkel MK; Korn J; Khurana E; Kural D; Lam HY; Leng J; Li R; Li Y; Lin CY; Luo R; Mu XJ; Nemesh J; Peckham HE; Rausch T; Scally A; Shi X; Stromberg MP; Stütz AM; Urban AE; Walker JA; Wu J; Zhang Y; Zhang ZD; Batzer MA; Ding L; Marth GT; McVean G; Sebat J; Snyder M; Wang J; Ye K; Eichler EE; Gerstein MB; Hurles ME; Lee C; McCarroll SA; Korbel JO;
    Nature; 2011 Feb; 470(7332):59-65. PubMed ID: 21293372
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The GENCODE exome: sequencing the complete human exome.
    Coffey AJ; Kokocinski F; Calafato MS; Scott CE; Palta P; Drury E; Joyce CJ; Leproust EM; Harrow J; Hunt S; Lehesjoki AE; Turner DJ; Hubbard TJ; Palotie A
    Eur J Hum Genet; 2011 Jul; 19(7):827-31. PubMed ID: 21364695
    [TBL] [Abstract][Full Text] [Related]  

  • 13. CONGA: Copy number variation genotyping in ancient genomes and low-coverage sequencing data.
    Söylev A; Çokoglu SS; Koptekin D; Alkan C; Somel M
    PLoS Comput Biol; 2022 Dec; 18(12):e1010788. PubMed ID: 36516232
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Unusual genomic rearrangements in introns 1 and 22 of the F8 gene.
    Zimmermann MA; Oldenburg J; Müller CR; Rost S
    Hamostaseologie; 2011 Nov; 31 Suppl 1():S69-73. PubMed ID: 22057311
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Efficient and cost effective population resequencing by pooling and in-solution hybridization.
    Bansal V; Tewhey R; Leproust EM; Schork NJ
    PLoS One; 2011 Mar; 6(3):e18353. PubMed ID: 21479135
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations.
    Deng L; Lou H; Zhang X; Thiruvahindrapuram B; Lu D; Marshall CR; Liu C; Xie B; Xu W; Wong LP; Yew CW; Farhang A; Ong RT; Hoque MZ; Thuhairah AR; Jong B; Phipps ME; Scherer SW; Teo YY; Kumar SV; Hoh BP; Xu S
    BMC Genomics; 2019 Nov; 20(1):842. PubMed ID: 31718558
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Accurate detection and genotyping of SNPs utilizing population sequencing data.
    Bansal V; Harismendy O; Tewhey R; Murray SS; Schork NJ; Topol EJ; Frazer KA
    Genome Res; 2010 Apr; 20(4):537-45. PubMed ID: 20150320
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Genomics: The tough new variants.
    Nature; 2010 Oct; 467(7319):1136. PubMed ID: 20981104
    [No Abstract]   [Full Text] [Related]  

  • 20. Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases.
    Bueno A; Rodríguez-López R; Reyes-Palomares A; Rojano E; Corpas M; Nevado J; Lapunzina P; Sánchez-Jiménez F; Ranea JAG
    Eur J Hum Genet; 2018 Oct; 26(10):1451-1461. PubMed ID: 29946186
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.