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 *

242 related articles for article (PubMed ID: 32393981)

  • 1. PedMiner: a tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data.
    Zhou J; Gao J; Zhang H; Zhao D; Li A; Iqbal F; Shi Q; Zhang Y
    Brief Bioinform; 2021 May; 22(3):. PubMed ID: 32393981
    [TBL] [Abstract][Full Text] [Related]  

  • 2. eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
    Bosio M; Drechsel O; Rahman R; Muyas F; Rabionet R; Bezdan D; Domenech Salgado L; Hor H; Schott JJ; Munell F; Colobran R; Macaya A; Estivill X; Ossowski S
    Hum Mutat; 2019 Jul; 40(7):865-878. PubMed ID: 31026367
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An automatic and efficient pipeline for disease gene identification through utilizing family-based sequencing data.
    Song D; Li N; Liao L
    Biomed Mater Eng; 2015; 26 Suppl 1():S1797-803. PubMed ID: 26405949
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer.
    Toma C; Díaz-Gay M; Franch-Expósito S; Arnau-Collell C; Overs B; Muñoz J; Bonjoch L; Soares de Lima Y; Ocaña T; Cuatrecasas M; Castells A; Bujanda L; Balaguer F; Cubiella J; Caldés T; Fullerton JM; Castellví-Bel S
    Int J Cancer; 2020 Mar; 146(6):1568-1577. PubMed ID: 31525256
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.
    Rabbani B; Mahdieh N; Hosomichi K; Nakaoka H; Inoue I
    J Hum Genet; 2012 Oct; 57(10):621-32. PubMed ID: 22832387
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
    LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
    PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.
    Chennen K; Weber T; Lornage X; Kress A; Böhm J; Thompson J; Laporte J; Poch O
    PLoS One; 2020; 15(7):e0236962. PubMed ID: 32735577
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
    Cipriani V; Pontikos N; Arno G; Sergouniotis PI; Lenassi E; Thawong P; Danis D; Michaelides M; Webster AR; Moore AT; Robinson PN; Jacobsen JOB; Smedley D
    Genes (Basel); 2020 Apr; 11(4):. PubMed ID: 32340307
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders.
    Mutarelli M; Marwah V; Rispoli R; Carrella D; Dharmalingam G; Oliva G; di Bernardo D
    BMC Genomics; 2014; 15 Suppl 3(Suppl 3):S5. PubMed ID: 25078076
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome sequencing greatly expedites the progressive research of Mendelian diseases.
    Zhang X
    Front Med; 2014 Mar; 8(1):42-57. PubMed ID: 24384736
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
    Platt CD; Zaman F; Bainter W; Stafstrom K; Almutairi A; Reigle M; Weeks S; Geha RS; Chou J;
    J Allergy Clin Immunol; 2021 Feb; 147(2):723-726. PubMed ID: 32888943
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.
    Fakhro KA; Robay A; Rodrigues-Flores JL; Mezey JG; Al-Shakaki AA; Chidiac O; Stadler D; Malek JA; Imam AB; Sheikh A; Azzam A; Janahi I; Khanjar I; Osman K; Ziki MA; Mahmah MA; Selim M; Numeiri N; Ali R; Lakhani S; Butt F; Omran TB; Crystal RG
    Hum Mol Genet; 2019 Dec; 28(23):3970-3981. PubMed ID: 31625567
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
    Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
    Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family.
    Guaragna MS; de Brito Lutaif ACG; de Souza ML; Maciel-Guerra AT; Belangero VMS; Guerra-Júnior G; de Mello MP
    Mol Genet Genomics; 2020 Jan; 295(1):135-142. PubMed ID: 31520189
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole exome sequencing in the rat.
    Foley JF; Phadke DP; Hardy O; Hardy S; Miller V; Madan A; Howard K; Kruse K; Lord C; Ramaiahgari S; Solomon GG; Shah RR; Pandiri AR; Herbert RA; Sills RC; Merrick BA
    BMC Genomics; 2018 Jun; 19(1):487. PubMed ID: 29925311
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
    Jalkh N; Corbani S; Haidar Z; Hamdan N; Farah E; Abou Ghoch J; Ghosn R; Salem N; Fawaz A; Djambas Khayat C; Rajab M; Mourani C; Moukarzel A; Rassi S; Gerbaka B; Mansour H; Baassiri M; Dagher R; Breich D; Mégarbané A; Desvignes JP; Delague V; Mehawej C; Chouery E
    BMC Med Genomics; 2019 Jan; 12(1):11. PubMed ID: 30665423
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases.
    Ordoñez-Labastida V; Montes-Almanza L; García-Martínez F; Zenteno JC
    Rev Invest Clin; 2022; 74(4):219-226. PubMed ID: 36087940
    [TBL] [Abstract][Full Text] [Related]  

  • 18. wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders.
    Li MJ; Deng J; Wang P; Yang W; Ho SL; Sham PC; Wang J; Li M
    Hum Mutat; 2015 May; 36(5):496-503. PubMed ID: 25676918
    [TBL] [Abstract][Full Text] [Related]  

  • 19. WEP: a high-performance analysis pipeline for whole-exome data.
    D'Antonio M; D'Onorio De Meo P; Paoletti D; Elmi B; Pallocca M; Sanna N; Picardi E; Pesole G; Castrignanò T
    BMC Bioinformatics; 2013; 14 Suppl 7(Suppl 7):S11. PubMed ID: 23815231
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gene Hunting Approaches through the Combination of Linkage Analysis with Whole-Exome Sequencing in Mendelian Diseases: From Darwin to the Present Day.
    Susgun S; Kasan K; Yucesan E
    Public Health Genomics; 2021; 24(5-6):207-217. PubMed ID: 34237751
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.