These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

262 related articles for article (PubMed ID: 30937429)

  • 1. An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
    Famiglietti ML; Estreicher A; Breuza L; Poux S; Redaschi N; Xenarios I; Bridge A;
    Database (Oxford); 2019 Jan; 2019():. PubMed ID: 30937429
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase.
    Yip YL; Famiglietti M; Gos A; Duek PD; David FP; Gateau A; Bairoch A
    Hum Mutat; 2008 Mar; 29(3):361-6. PubMed ID: 18175334
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation.
    Famiglietti ML; Estreicher A; Gos A; Bolleman J; Géhant S; Breuza L; Bridge A; Poux S; Redaschi N; Bougueleret L; Xenarios I;
    Hum Mutat; 2014 Aug; 35(8):927-35. PubMed ID: 24848695
    [TBL] [Abstract][Full Text] [Related]  

  • 4. UniProtKB/Swiss-Prot, the Manually Annotated Section of the UniProt KnowledgeBase: How to Use the Entry View.
    Boutet E; Lieberherr D; Tognolli M; Schneider M; Bansal P; Bridge AJ; Poux S; Bougueleret L; Xenarios I
    Methods Mol Biol; 2016; 1374():23-54. PubMed ID: 26519399
    [TBL] [Abstract][Full Text] [Related]  

  • 5. UniProtKB/Swiss-Prot.
    Boutet E; Lieberherr D; Tognolli M; Schneider M; Bairoch A
    Methods Mol Biol; 2007; 406():89-112. PubMed ID: 18287689
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The UniProtKB/Swiss-Prot knowledgebase and its Plant Proteome Annotation Program.
    Schneider M; Lane L; Boutet E; Lieberherr D; Tognolli M; Bougueleret L; Bairoch A
    J Proteomics; 2009 Apr; 72(3):567-73. PubMed ID: 19084081
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
    Goldstein JL; McGlaughon J; Kanavy D; Goomber S; Pan Y; Deml B; Donti T; Kearns L; Seifert BA; Schachter M; Son RG; Thaxton C; Udani R; Bali D; Baudet H; Caggana M; Hung C; Kyriakopoulou L; Rosenblum L; Steiner R; Pinto E Vairo F; Wang Y; Watson M; Fernandez R; Weaver M; Clarke L; Rehder C
    Mol Genet Metab; 2023; 140(1-2):107715. PubMed ID: 37907381
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The UniProtKB/Swiss-Prot Tox-Prot program: A central hub of integrated venom protein data.
    Jungo F; Bougueleret L; Xenarios I; Poux S
    Toxicon; 2012 Sep; 60(4):551-7. PubMed ID: 22465017
    [TBL] [Abstract][Full Text] [Related]  

  • 9. On expert curation and scalability: UniProtKB/Swiss-Prot as a case study.
    Poux S; Arighi CN; Magrane M; Bateman A; Wei CH; Lu Z; Boutet E; Bye-A-Jee H; Famiglietti ML; Roechert B; UniProt Consortium T
    Bioinformatics; 2017 Nov; 33(21):3454-3460. PubMed ID: 29036270
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The UniProtKB guide to the human proteome.
    Breuza L; Poux S; Estreicher A; Famiglietti ML; Magrane M; Tognolli M; Bridge A; Baratin D; Redaschi N;
    Database (Oxford); 2016; 2016():. PubMed ID: 26896845
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
    Patel MJ; DiStefano MT; Oza AM; Hughes MY; Wilcox EH; Hemphill SE; Cushman BJ; Grant AR; Siegert RK; Shen J; Chapin A; Boczek NJ; Schimmenti LA; Nara K; Kenna M; Azaiez H; Booth KT; Avraham KB; Kremer H; Griffith AJ; Rehm HL; Amr SS; Tayoun ANA;
    Genet Med; 2021 Nov; 23(11):2208-2212. PubMed ID: 34230634
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Scaling up data curation using deep learning: An application to literature triage in genomic variation resources.
    Lee K; Famiglietti ML; McMahon A; Wei CH; MacArthur JAL; Poux S; Breuza L; Bridge A; Cunningham F; Xenarios I; Lu Z
    PLoS Comput Biol; 2018 Aug; 14(8):e1006390. PubMed ID: 30102703
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Somatic cancer variant curation and harmonization through consensus minimum variant level data.
    Ritter DI; Roychowdhury S; Roy A; Rao S; Landrum MJ; Sonkin D; Shekar M; Davis CF; Hart RK; Micheel C; Weaver M; Van Allen EM; Parsons DW; McLeod HL; Watson MS; Plon SE; Kulkarni S; Madhavan S;
    Genome Med; 2016 Nov; 8(1):117. PubMed ID: 27814769
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
    Wain KE; Palen E; Savatt JM; Shuman D; Finucane B; Seeley A; Challman TD; Myers SM; Martin CL
    Hum Mutat; 2018 Nov; 39(11):1660-1667. PubMed ID: 30311381
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Using ClinVar as a Resource to Support Variant Interpretation.
    Harrison SM; Riggs ER; Maglott DR; Lee JM; Azzariti DR; Niehaus A; Ramos EM; Martin CL; Landrum MJ; Rehm HL
    Curr Protoc Hum Genet; 2016 Apr; 89():8.16.1-8.16.23. PubMed ID: 27037489
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Automatically extracting functionally equivalent proteins from SwissProt.
    McMillan LE; Martin AC
    BMC Bioinformatics; 2008 Oct; 9():418. PubMed ID: 18838004
    [TBL] [Abstract][Full Text] [Related]  

  • 17. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
    Patel RY; Shah N; Jackson AR; Ghosh R; Pawliczek P; Paithankar S; Baker A; Riehle K; Chen H; Milosavljevic S; Bizon C; Rynearson S; Nelson T; Jarvik GP; Rehm HL; Harrison SM; Azzariti D; Powell B; Babb L; Plon SE; Milosavljevic A;
    Genome Med; 2017 Jan; 9(1):3. PubMed ID: 28081714
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Plant protein annotation in the UniProt Knowledgebase.
    Schneider M; Bairoch A; Wu CH; Apweiler R
    Plant Physiol; 2005 May; 138(1):59-66. PubMed ID: 15888679
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
    Zastrow DB; Baudet H; Shen W; Thomas A; Si Y; Weaver MA; Lager AM; Liu J; Mangels R; Dwight SS; Wright MW; Dobrowolski SF; Eilbeck K; Enns GM; Feigenbaum A; Lichter-Konecki U; Lyon E; Pasquali M; Watson M; Blau N; Steiner RD; Craigen WJ; Mao R;
    Hum Mutat; 2018 Nov; 39(11):1569-1580. PubMed ID: 30311390
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
    Richardson ME; Holdren M; Brannan T; de la Hoya M; Spurdle AB; Tavtigian SV; Young CC; Zec L; Hiraki S; Anderson MJ; Walker LC; McNulty S; Turnbull C; Tischkowitz M; Schon K; Slavin T; Foulkes WD; Cline M; Monteiro AN; Pesaran T; Couch FJ
    Am J Hum Genet; 2024 Nov; 111(11):2411-2426. PubMed ID: 39317201
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.