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 *

421 related articles for article (PubMed ID: 31679514)

  • 1. MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect.
    Esposito D; Weile J; Shendure J; Starita LM; Papenfuss AT; Roth FP; Fowler DM; Rubin AF
    Genome Biol; 2019 Nov; 20(1):223. PubMed ID: 31679514
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mapping MAVE data for use in human genomics applications.
    Arbesfeld JA; Da EY; Stevenson JS; Kuzma K; Paul A; Farris T; Capodanno BJ; Grindstaff SB; Riehle K; Saraiva-Agostinho N; Safer JF; Milosavljevic A; Foreman J; Firth HV; Hunt SE; Iqbal S; Cline MS; Rubin AF; Wagner AH
    bioRxiv; 2024 Jun; ():. PubMed ID: 38979347
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.
    Claussnitzer M; Parikh VN; Wagner AH; Arbesfeld JA; Bult CJ; Firth HV; Muffley LA; Nguyen Ba AN; Riehle K; Roth FP; Tabet D; Bolognesi B; Glazer AM; Rubin AF
    ArXiv; 2023 Jun; ():. PubMed ID: 37426450
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Minimum information and guidelines for reporting a multiplexed assay of variant effect.
    Claussnitzer M; Parikh VN; Wagner AH; Arbesfeld JA; Bult CJ; Firth HV; Muffley LA; Nguyen Ba AN; Riehle K; Roth FP; Tabet D; Bolognesi B; Glazer AM; Rubin AF
    Genome Biol; 2024 Apr; 25(1):100. PubMed ID: 38641812
    [TBL] [Abstract][Full Text] [Related]  

  • 5. MAVE-NN: learning genotype-phenotype maps from multiplex assays of variant effect.
    Tareen A; Kooshkbaghi M; Posfai A; Ireland WT; McCandlish DM; Kinney JB
    Genome Biol; 2022 Apr; 23(1):98. PubMed ID: 35428271
    [TBL] [Abstract][Full Text] [Related]  

  • 6. satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect.
    Hoskins I; Sun S; Cote A; Roth FP; Cenik C
    Genome Biol; 2023 Apr; 24(1):82. PubMed ID: 37081510
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MaveRegistry: a collaboration platform for multiplexed assays of variant effect.
    Kuang D; Weile J; Kishore N; Nguyen M; Rubin AF; Fields S; Fowler DM; Roth FP
    Bioinformatics; 2021 Oct; 37(19):3382-3383. PubMed ID: 33774657
    [TBL] [Abstract][Full Text] [Related]  

  • 8. MaveQuest: a web resource for planning experimental tests of human variant effects.
    Kuang D; Weile J; Li R; Ouellette TW; Barber JA; Roth FP
    Bioinformatics; 2020 Jun; 36(12):3938-3940. PubMed ID: 32251504
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A web application and service for imputing and visualizing missense variant effect maps.
    Wu Y; Weile J; Cote AG; Sun S; Knapp J; Verby M; Roth FP
    Bioinformatics; 2019 Sep; 35(17):3191-3193. PubMed ID: 30649215
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An Atlas of Variant Effects to understand the genome at nucleotide resolution.
    Fowler DM; Adams DJ; Gloyn AL; Hahn WC; Marks DS; Muffley LA; Neal JT; Roth FP; Rubin AF; Starita LM; Hurles ME
    Genome Biol; 2023 Jul; 24(1):147. PubMed ID: 37394429
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
    Fayer S; Horton C; Dines JN; Rubin AF; Richardson ME; McGoldrick K; Hernandez F; Pesaran T; Karam R; Shirts BH; Fowler DM; Starita LM
    Am J Hum Genet; 2021 Dec; 108(12):2248-2258. PubMed ID: 34793697
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Multiplexed assays of variant effects contribute to a growing genotype-phenotype atlas.
    Weile J; Roth FP
    Hum Genet; 2018 Sep; 137(9):665-678. PubMed ID: 30073413
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
    Padigepati SR; Stafford DA; Tan CA; Silvis MR; Jamieson K; Keyser A; Nunez PAC; Nicoludis JM; Manders T; Fresard L; Kobayashi Y; Araya CL; Aradhya S; Johnson B; Nykamp K; Reuter JA
    Hum Genet; 2024 Aug; 143(8):995-1004. PubMed ID: 39085601
    [TBL] [Abstract][Full Text] [Related]  

  • 14. JWES: a new pipeline for whole genome/exome sequence data processing, management, and gene-variant discovery, annotation, prediction, and genotyping.
    Ahmed Z; Renart EG; Mishra D; Zeeshan S
    FEBS Open Bio; 2021 Sep; 11(9):2441-2452. PubMed ID: 34370400
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The power of multiplexed functional analysis of genetic variants.
    Gasperini M; Starita L; Shendure J
    Nat Protoc; 2016 Oct; 11(10):1782-7. PubMed ID: 27583640
    [TBL] [Abstract][Full Text] [Related]  

  • 16. mutscan-a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data.
    Soneson C; Bendel AM; Diss G; Stadler MB
    Genome Biol; 2023 Jun; 24(1):132. PubMed ID: 37264470
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.
    Lerner-Ellis J; Wang M; White S; Lebo MS;
    J Med Genet; 2015 Jul; 52(7):438-45. PubMed ID: 25904639
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Human variation database: an open-source database template for genomic discovery.
    Fejes AP; Khodabakhshi AH; Birol I; Jones SJ
    Bioinformatics; 2011 Apr; 27(8):1155-6. PubMed ID: 21367872
    [TBL] [Abstract][Full Text] [Related]  

  • 19. DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.
    Foreman J; Brent S; Perrett D; Bevan AP; Hunt SE; Cunningham F; Hurles ME; Firth HV
    Hum Mutat; 2022 Jun; 43(6):682-697. PubMed ID: 35143074
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.
    Matreyek KA; Stephany JJ; Ahler E; Fowler DM
    Genome Med; 2021 Oct; 13(1):165. PubMed ID: 34649609
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.