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 *

53 related articles for article (PubMed ID: 36528806)

  • 1. VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants.
    Ge F; Li C; Iqbal S; Muhammad A; Li F; Thafar MA; Yan Z; Worachartcheewan A; Xu X; Song J; Yu DJ
    Brief Bioinform; 2023 Jan; 24(1):. PubMed ID: 36528806
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
    Stein D; Kars ME; Wu Y; Bayrak ÇS; Stenson PD; Cooper DN; Schlessinger A; Itan Y
    Genome Med; 2023 Nov; 15(1):103. PubMed ID: 38037155
    [TBL] [Abstract][Full Text] [Related]  

  • 3. MMPatho: Leveraging Multilevel Consensus and Evolutionary Information for Enhanced Missense Mutation Pathogenic Prediction.
    Ge F; Arif M; Yan Z; Alahmadi H; Worachartcheewan A; Yu DJ; Shoombuatong W
    J Chem Inf Model; 2023 Nov; 63(22):7239-7257. PubMed ID: 37947586
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
    Heyne HO; Baez-Nieto D; Iqbal S; Palmer DS; Brunklaus A; May P; ; Johannesen KM; Lauxmann S; Lemke JR; Møller RS; Pérez-Palma E; Scholl UI; Syrbe S; Lerche H; Lal D; Campbell AJ; Wang HR; Pan J; Daly MJ
    Sci Transl Med; 2020 Aug; 12(556):. PubMed ID: 32801145
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
    Singer-Berk M; Gudmundsson S; Baxter S; Seaby EG; England E; Wood JC; Son RG; Watts NA; Karczewski KJ; Harrison SM; MacArthur DG; Rehm HL; O'Donnell-Luria A
    Am J Hum Genet; 2023 Sep; 110(9):1496-1508. PubMed ID: 37633279
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.
    Singer-Berk M; Gudmundsson S; Baxter S; Seaby EG; England E; Wood JC; Son RG; Watts NA; Karczewski KJ; Harrison SM; MacArthur DG; Rehm HL; O'Donnell-Luria A
    medRxiv; 2023 Mar; ():. PubMed ID: 36945502
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Structural mapping of patient-associated
    Moldenhauer HJ; Tammen K; Meredith AL
    bioRxiv; 2023 Nov; ():. PubMed ID: 37546746
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
    Myers SJ; Yuan H; Perszyk RE; Zhang J; Kim S; Nocilla KA; Allen JP; Bain JM; Lemke JR; Lal D; Benke TA; Traynelis SF
    Hum Mol Genet; 2023 Sep; 32(19):2857-2871. PubMed ID: 37369021
    [TBL] [Abstract][Full Text] [Related]  

  • 9. PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context.
    Zhong G; Zhao Y; Zhuang D; Chung WK; Shen Y
    bioRxiv; 2024 May; ():. PubMed ID: 38746140
    [TBL] [Abstract][Full Text] [Related]  

  • 10. When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.
    Pagel KA; Pejaver V; Lin GN; Nam HJ; Mort M; Cooper DN; Sebat J; Iakoucheva LM; Mooney SD; Radivojac P
    Bioinformatics; 2017 Jul; 33(14):i389-i398. PubMed ID: 28882004
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants.
    Fan X; Pan H; Tian A; Chung WK; Shen Y
    Brief Bioinform; 2023 Jan; 24(1):. PubMed ID: 36575831
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Critical assessment of missense variant effect predictors on disease-relevant variant data.
    Rastogi R; Chung R; Li S; Li C; Lee K; Woo J; Kim DW; Keum C; Babbi G; Martelli PL; Savojardo C; Casadio R; Chennen K; Weber T; Poch O; Ancien F; Cia G; Pucci F; Raimondi D; Vranken W; Rooman M; Marquet C; Olenyi T; Rost B; Andreoletti G; Kamandula A; Peng Y; Bakolitsa C; Mort M; Cooper DN; Bergquist T; Pejaver V; Liu X; Radivojac P; Brenner SE; Ioannidis NM
    bioRxiv; 2024 Jun; ():. PubMed ID: 38895200
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Dominant negative variants and cotranslational assembly of macromolecular complexes.
    Veitia RA
    Bioessays; 2023 Nov; 45(11):e2300105. PubMed ID: 37551714
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Gain-of-Function Variomics and Multi-omics Network Biology for Precision Medicine.
    Li MM; Awasthi S; Ghosh S; Bisht D; Coban Akdemir ZH; Sheynkman GM; Sahni N; Yi SS
    Methods Mol Biol; 2023; 2660():357-372. PubMed ID: 37191809
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors.
    Montanucci L; Brünger T; Bhattarai N; Boßelmann CM; Kim S; Allen JP; Zhang J; Klöckner C; Fariselli P; May P; Lemke JR; Myers SJ; Yuan H; Traynelis SF; Lal D
    medRxiv; 2024 May; ():. PubMed ID: 38766179
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.
    Chen Y; Lee K; Woo J; Kim DW; Keum C; Babbi G; Casadio R; Martelli PL; Savojardo C; Manfredi M; Shen Y; Sun Y; Katsonis P; Lichtarge O; Pejaver V; Seward DJ; Kamandula A; Bakolitsa C; Brenner SE; Radivojac P; O'Donnell-Luria A; Mooney SD; Jain S
    Res Sq; 2024 Jul; ():. PubMed ID: 39011112
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Unraveling the Immunogenetics of STAT Proteins: Clinical Perspectives on Gain-of-Function and Loss-of-Function Variants.
    Meesilpavikkai K; Hirankarn N; Dalm VASH; Hagen PMV; Dik WA; IJspeert H
    Asian Pac J Allergy Immunol; 2024 Jun; 42(2):105-122. PubMed ID: 38710647
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting.
    Ding M; Chen K; Yang Y; Zhao H
    Hum Genet; 2024 Apr; ():. PubMed ID: 38575818
    [TBL] [Abstract][Full Text] [Related]  

  • 19. FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction.
    Tsishyn M; Cia G; Hermans P; Kwasigroch J; Rooman M; Pucci F
    Hum Genomics; 2024 Apr; 18(1):36. PubMed ID: 38627807
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The landscape of tolerated genetic variation in humans and primates.
    Gao H; Hamp T; Ede J; Schraiber JG; McRae J; Singer-Berk M; Yang Y; Dietrich A; Fiziev P; Kuderna L; Sundaram L; Wu Y; Adhikari A; Field Y; Chen C; Batzoglou S; Aguet F; Lemire G; Reimers R; Balick D; Janiak MC; Kuhlwilm M; Orkin JD; Manu S; Valenzuela A; Bergman J; Rouselle M; Silva FE; Agueda L; Blanc J; Gut M; de Vries D; Goodhead I; Harris RA; Raveendran M; Jensen A; Chuma IS; Horvath J; Hvilsom C; Juan D; Frandsen P; de Melo FR; Bertuol F; Byrne H; Sampaio I; Farias I; do Amaral JV; Messias M; da Silva MNF; Trivedi M; Rossi R; Hrbek T; Andriaholinirina N; Rabarivola CJ; Zaramody A; Jolly CJ; Phillips-Conroy J; Wilkerson G; Abee C; Simmons JH; Fernandez-Duque E; Kanthaswamy S; Shiferaw F; Wu D; Zhou L; Shao Y; Zhang G; Keyyu JD; Knauf S; Le MD; Lizano E; Merker S; Navarro A; Batallion T; Nadler T; Khor CC; Lee J; Tan P; Lim WK; Kitchener AC; Zinner D; Gut I; Melin A; Guschanski K; Schierup MH; Beck RMD; Umapathy G; Roos C; Boubli JP; Lek M; Sunyaev S; O'Donnell A; Rehm H; Xu J; Rogers J; Marques-Bonet T; Kai-How Farh K
    bioRxiv; 2023 May; ():. PubMed ID: 37205491
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 3.