BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 27843123)

  • 1. Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
    Garber KB; Vincent LM; Alexander JJ; Bean LJH; Bale S; Hegde M
    Am J Hum Genet; 2016 Nov; 99(5):1140-1149. PubMed ID: 27843123
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The current state of clinical interpretation of sequence variants.
    Hoskinson DC; Dubuc AM; Mason-Suares H
    Curr Opin Genet Dev; 2017 Feb; 42():33-39. PubMed ID: 28157586
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
    Tudini E; Andrews J; Lawrence DM; King-Smith SL; Baker N; Baxter L; Beilby J; Bennetts B; Beshay V; Black M; Boughtwood TF; Brion K; Cheong PL; Christie M; Christodoulou J; Chong B; Cox K; Davis MR; Dejong L; Dinger ME; Doig KD; Douglas E; Dubowsky A; Ellul M; Fellowes A; Fisk K; Fortuno C; Friend K; Gallagher RL; Gao S; Hackett E; Hadler J; Hipwell M; Ho G; Hollway G; Hooper AJ; Kassahn KS; Krishnaraj R; Lau C; Le H; San Leong H; Lundie B; Lunke S; Marty A; McPhillips M; Nguyen LT; Nones K; Palmer K; Pearson JV; Quinn MCJ; Rawlings LH; Sadedin S; Sanchez L; Schreiber AW; Sigalas E; Simsek A; Soubrier J; Stark Z; Thompson BA; U J; Vakulin CG; Wells AV; Wise CA; Woods R; Ziolkowski A; Brion MJ; Scott HS; Thorne NP; Spurdle AB;
    Am J Hum Genet; 2022 Nov; 109(11):1960-1973. PubMed ID: 36332611
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
    Harrison SM; Dolinksy JS; Chen W; Collins CD; Das S; Deignan JL; Garber KB; Garcia J; Jarinova O; Knight Johnson AE; Koskenvuo JW; Lee H; Mao R; Mar-Heyming R; McFaddin AS; Moyer K; Nagan N; Rentas S; Santani AB; Seppälä EH; Shirts BH; Tidwell T; Topper S; Vincent LM; Vinette K; Rehm HL;
    Hum Mutat; 2018 Nov; 39(11):1641-1649. PubMed ID: 30311378
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
    Harrison SM; Dolinsky JS; Knight Johnson AE; Pesaran T; Azzariti DR; Bale S; Chao EC; Das S; Vincent L; Rehm HL
    Genet Med; 2017 Oct; 19(10):1096-1104. PubMed ID: 28301460
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.
    Chakravorty S; Hegde M
    Annu Rev Genomics Hum Genet; 2017 Aug; 18():229-256. PubMed ID: 28415856
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
    SoRelle JA; Pascual JM; Gotway G; Park JY
    JAMA Netw Open; 2020 Apr; 3(4):e203812. PubMed ID: 32347949
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.
    Bean LJ; Hegde MR
    Hum Mutat; 2016 Jun; 37(6):559-63. PubMed ID: 26931283
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genomic medicine and risk prediction across the disease spectrum.
    Kotze MJ; Lückhoff HK; Peeters AV; Baatjes K; Schoeman M; van der Merwe L; Grant KA; Fisher LR; van der Merwe N; Pretorius J; van Velden DP; Myburgh EJ; Pienaar FM; van Rensburg SJ; Yako YY; September AV; Moremi KE; Cronje FJ; Tiffin N; Bouwens CS; Bezuidenhout J; Apffelstaedt JP; Hough FS; Erasmus RT; Schneider JW
    Crit Rev Clin Lab Sci; 2015; 52(3):120-37. PubMed ID: 25597499
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.
    Pepin MG; Murray ML; Bailey S; Leistritz-Kessler D; Schwarze U; Byers PH
    Genet Med; 2016 Jan; 18(1):20-4. PubMed ID: 25834947
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates.
    Manrai AK; Ioannidis JP; Kohane IS
    JAMA; 2016 Mar 22-29; 315(12):1233-4. PubMed ID: 26925924
    [No Abstract]   [Full Text] [Related]  

  • 12. Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.
    Gelman H; Dines JN; Berg J; Berger AH; Brnich S; Hisama FM; James RG; Rubin AF; Shendure J; Shirts B; Fowler DM; Starita LM;
    Genome Med; 2019 Dec; 11(1):85. PubMed ID: 31862013
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An integrated framework for reporting clinically relevant biomarkers from paired tumor/normal genomic and transcriptomic sequencing data in support of clinical trials in personalized medicine.
    Nasser S; Kurdolgu AA; Izatt T; Aldrich J; Russell ML; Christoforides A; Tembe W; Keifer JA; Corneveaux JJ; Byron SA; Forman KM; Zuccaro C; Keats JJ; Lorusso PM; Carpten JD; Trent JM; Craig DW
    Pac Symp Biocomput; 2015; ():56-67. PubMed ID: 25592568
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants.
    He MM; Li Q; Yan M; Cao H; Hu Y; He KY; Cao K; Li MM; Wang K
    Genome Med; 2019 Aug; 11(1):53. PubMed ID: 31443733
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Precision Medicine in Internal Medicine.
    Kiryluk K; Goldstein DB; Rowe JW; Gharavi AG; Wapner R; Chung WK
    Ann Intern Med; 2019 May; 170(9):635-642. PubMed ID: 31035290
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Adding Protective Genetic Variants to Clinical Reporting of Genomic Screening Results: Restoring Balance.
    Schwartz MLB; Williams MS; Murray MF
    JAMA; 2017 Apr; 317(15):1527-1528. PubMed ID: 28288260
    [No Abstract]   [Full Text] [Related]  

  • 17. Harmonizing variant classification for return of results in the All of Us Research Program.
    Harrison SM; Austin-Tse CA; Kim S; Lebo M; Leon A; Murdock D; Radhakrishnan A; Shirts BH; Steeves M; Venner E; Gibbs RA; Jarvik GP; Rehm HL
    Hum Mutat; 2022 Aug; 43(8):1114-1121. PubMed ID: 34923710
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
    ;
    Am J Hum Genet; 2019 Sep; 105(3):588-605. PubMed ID: 31447099
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
    DiStefano MT; Goehringer S; Babb L; Alkuraya FS; Amberger J; Amin M; Austin-Tse C; Balzotti M; Berg JS; Birney E; Bocchini C; Bruford EA; Coffey AJ; Collins H; Cunningham F; Daugherty LC; Einhorn Y; Firth HV; Fitzpatrick DR; Foulger RE; Goldstein J; Hamosh A; Hurles MR; Leigh SE; Leong IUS; Maddirevula S; Martin CL; McDonagh EM; Olry A; Puzriakova A; Radtke K; Ramos EM; Rath A; Riggs ER; Roberts AM; Rodwell C; Snow C; Stark Z; Tahiliani J; Tweedie S; Ware JS; Weller P; Williams E; Wright CF; Yates TM; Rehm HL
    Genet Med; 2022 Aug; 24(8):1732-1742. PubMed ID: 35507016
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A feasibility study of returning clinically actionable somatic genomic alterations identified in a research laboratory.
    Arango NP; Brusco L; Mills Shaw KR; Chen K; Eterovic AK; Holla V; Johnson A; Litzenburger B; Khotskaya YB; Sanchez N; Bailey A; Zheng X; Horombe C; Kopetz S; Farhangfar CJ; Routbort M; Broaddus R; Bernstam EV; Mendelsohn J; Mills GB; Meric-Bernstam F
    Oncotarget; 2017 Jun; 8(26):41806-41814. PubMed ID: 28415679
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.