BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

121 related articles for article (PubMed ID: 36732776)

  • 1. LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes.
    Alasiri A; Karczewski KJ; Cole B; Loza BL; Moore JH; van der Laan SW; Asselbergs FW; Keating BJ; van Setten J
    BioData Min; 2023 Feb; 16(1):3. PubMed ID: 36732776
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.
    Koprulu M; Zhao Y; Wheeler E; Dong L; Rocha N; Li C; Griffin JD; Patel S; Van de Streek M; Glastonbury CA; Stewart ID; Day FR; Luan J; Bowker N; Wittemans LBL; Kerrison ND; Cai L; Lucarelli DME; Barroso I; McCarthy MI; Scott RA; Saudek V; Small KS; Wareham NJ; Semple RK; Perry JRB; O'Rahilly S; Lotta LA; Langenberg C; Savage DB
    J Clin Endocrinol Metab; 2022 Mar; 107(4):1065-1077. PubMed ID: 34875679
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.
    Rausell A; Luo Y; Lopez M; Seeleuthner Y; Rapaport F; Favier A; Stenson PD; Cooper DN; Patin E; Casanova JL; Quintana-Murci L; Abel L
    Proc Natl Acad Sci U S A; 2020 Jun; 117(24):13626-13636. PubMed ID: 32487729
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
    Blauwendraat C; Reed X; Kia DA; Gan-Or Z; Lesage S; Pihlstrøm L; Guerreiro R; Gibbs JR; Sabir M; Ahmed S; Ding J; Alcalay RN; Hassin-Baer S; Pittman AM; Brooks J; Edsall C; Hernandez DG; Chung SJ; Goldwurm S; Toft M; Schulte C; Bras J; Wood NW; Brice A; Morris HR; Scholz SW; Nalls MA; Singleton AB; Cookson MR;
    JAMA Neurol; 2018 Nov; 75(11):1416-1422. PubMed ID: 30039155
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
    Li AH; Hanchard NA; Furthner D; Fernbach S; Azamian M; Nicosia A; Rosenfeld J; Muzny D; D'Alessandro LCA; Morris S; Jhangiani S; Parekh DR; Franklin WJ; Lewin M; Towbin JA; Penny DJ; Fraser CD; Martin JF; Eng C; Lupski JR; Gibbs RA; Boerwinkle E; Belmont JW
    Genome Med; 2017 Oct; 9(1):95. PubMed ID: 29089047
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.
    Balasubramanian S; Fu Y; Pawashe M; McGillivray P; Jin M; Liu J; Karczewski KJ; MacArthur DG; Gerstein M
    Nat Commun; 2017 Aug; 8(1):382. PubMed ID: 28851873
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A systematic survey of loss-of-function variants in human protein-coding genes.
    MacArthur DG; Balasubramanian S; Frankish A; Huang N; Morris J; Walter K; Jostins L; Habegger L; Pickrell JK; Montgomery SB; Albers CA; Zhang ZD; Conrad DF; Lunter G; Zheng H; Ayub Q; DePristo MA; Banks E; Hu M; Handsaker RE; Rosenfeld JA; Fromer M; Jin M; Mu XJ; Khurana E; Ye K; Kay M; Saunders GI; Suner MM; Hunt T; Barnes IH; Amid C; Carvalho-Silva DR; Bignell AH; Snow C; Yngvadottir B; Bumpstead S; Cooper DN; Xue Y; Romero IG; ; Wang J; Li Y; Gibbs RA; McCarroll SA; Dermitzakis ET; Pritchard JK; Barrett JC; Harrow J; Hurles ME; Gerstein MB; Tyler-Smith C
    Science; 2012 Feb; 335(6070):823-8. PubMed ID: 22344438
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Rare and population-specific functional variation across pig lines.
    Ros-Freixedes R; Valente BD; Chen CY; Herring WO; Gorjanc G; Hickey JM; Johnsson M
    Genet Sel Evol; 2022 Jun; 54(1):39. PubMed ID: 35659233
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
    Herkert JC; Verhagen JMA; Yotti R; Haghighi A; Phelan DG; James PA; Brown NJ; Stutterd C; Macciocca I; Leong K; Bulthuis MLC; van Bever Y; van Slegtenhorst MA; Boven LG; Roberts AE; Agarwal R; Seidman J; Lakdawala NK; Fernández-Avilés F; Burke MA; Pierpont ME; Braunlin E; Ḉağlayan AO; Barge-Schaapveld DQCM; Birnie E; van Osch-Gevers L; van Langen IM; Jongbloed JDH; Lockhart PJ; Amor DJ; Seidman CE; van de Laar IMBH
    Am Heart J; 2020 Jul; 225():108-119. PubMed ID: 32480058
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
    Li N; Rowley SM; Thompson ER; McInerny S; Devereux L; Amarasinghe KC; Zethoven M; Lupat R; Goode D; Li J; Trainer AH; Gorringe KL; James PA; Campbell IG
    Breast Cancer Res; 2018 Jan; 20(1):3. PubMed ID: 29316957
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
    Schramm C; Charbonnier C; Zaréa A; Lacour M; Wallon D; ; Boland A; Deleuze JF; Olaso R; ; Alarcon F; Campion D; Nuel G; Nicolas G
    Genome Med; 2022 Jun; 14(1):69. PubMed ID: 35761418
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
    Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Jamra RA; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Falkenberg Smeland M; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; Potocki L; Flores-Gallegos L; Morales-Toquero R; Petit F; Yalcin B; Tuttle A; Elloumi HZ; Mccormick L; Kukolich M; Klaas O; Horvath J; Scala M; Iacomino M; Operto F; Zara F; Writzl K; Maver A; Haanpää MK; Pohjola P; Arikka H; Iseli C; Guex N; Reymond A
    medRxiv; 2024 Jan; ():. PubMed ID: 38293053
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
    Ayers KL; Glicksberg BS; Garfield AS; Longerich S; White JA; Yang P; Du L; Chittenden TW; Gulcher JR; Roy S; Fiedorek F; Gottesdiener K; Cohen S; North KE; Schadt EE; Li SD; Chen R; Van der Ploeg LHT
    J Clin Endocrinol Metab; 2018 Jul; 103(7):2601-2612. PubMed ID: 29726959
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
    Sevim Bayrak C; Stein D; Jain A; Chaudhary K; Nadkarni GN; Van Vleck TT; Puel A; Boisson-Dupuis S; Okada S; Stenson PD; Cooper DN; Schlessinger A; Itan Y
    Am J Hum Genet; 2021 Dec; 108(12):2301-2318. PubMed ID: 34762822
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.
    Oved JH; Babushok DV; Lambert MP; Wolfset N; Kowalska MA; Poncz M; Karczewski KJ; Olson TS
    Blood Adv; 2020 Oct; 4(20):5232-5245. PubMed ID: 33104793
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.
    Spedicati B; Cocca M; Palmisano R; Faletra F; Barbieri C; Francescatto M; Mezzavilla M; Morgan A; Pelliccione G; Gasparini P; Girotto G
    Eur J Hum Genet; 2021 Aug; 29(8):1272-1281. PubMed ID: 33727708
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.