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 *

160 related articles for article (PubMed ID: 37891200)

  • 1. Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
    Steyaert W; Haer-Wigman L; Pfundt R; Hellebrekers D; Steehouwer M; Hampstead J; de Boer E; Stegmann A; Yntema H; Kamsteeg EJ; Brunner H; Hoischen A; Gilissen C
    Nat Commun; 2023 Oct; 14(1):6845. PubMed ID: 37891200
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
    Belkadi A; Bolze A; Itan Y; Cobat A; Vincent QB; Antipenko A; Shang L; Boisson B; Casanova JL; Abel L
    Proc Natl Acad Sci U S A; 2015 Apr; 112(17):5473-8. PubMed ID: 25827230
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Computational analysis in cancer exome sequencing.
    Evans P; Kong Y; Krauthammer M
    Methods Mol Biol; 2014; 1176():219-27. PubMed ID: 25030931
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1.
    Vandamme T; Peeters M; Dogan F; Pauwels P; Van Assche E; Beyens M; Mortier G; Vandeweyer G; de Herder W; Van Camp G; Hofland LJ; Op de Beeck K
    J Mol Endocrinol; 2015 Apr; 54(2):137-47. PubMed ID: 25612765
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations.
    Ji Y; Zhao J; Gong J; Sedlazeck FJ; Fan S
    Mol Genet Genomics; 2024 Jul; 299(1):65. PubMed ID: 38972030
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
    Engelhardt KR; Xu Y; Grainger A; Germani Batacchi MG; Swan DJ; Willet JD; Abd Hamid IJ; Agyeman P; Barge D; Bibi S; Jenkins L; Flood TJ; Abinun M; Slatter MA; Gennery AR; Cant AJ; Santibanez Koref M; Gilmour K; Hambleton S
    J Clin Immunol; 2017 Jan; 37(1):42-50. PubMed ID: 27807805
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Bioinformatics Basics for High-Throughput Hybridization-Based Targeted DNA Sequencing from FFPE-Derived Tumor Specimens: From Reads to Variants.
    Sun S; Murray SS
    Methods Mol Biol; 2019; 1908():37-48. PubMed ID: 30649719
    [TBL] [Abstract][Full Text] [Related]  

  • 8. KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
    Kim J; Weber JA; Jho S; Jang J; Jun J; Cho YS; Kim HM; Kim H; Kim Y; Chung O; Kim CG; Lee H; Kim BC; Han K; Koh I; Chae KS; Lee S; Edwards JS; Bhak J
    Sci Rep; 2018 Apr; 8(1):5677. PubMed ID: 29618732
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients.
    Suzuki H; Yamada M; Uehara T; Takenouchi T; Kosaki K
    Am J Med Genet A; 2020 Nov; 182(11):2529-2532. PubMed ID: 32779332
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.
    Rančelis T; Arasimavičius J; Ambrozaitytė L; Kavaliauskienė I; Domarkienė I; Karčiauskaitė D; Kučinskienė ZA; Kučinskas V
    Genet Res (Camb); 2017 Aug; 99():e6. PubMed ID: 28851476
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.
    Jo HY; Park MH; Woo HM; Han MH; Kim BY; Choi BO; Chung KW; Koo SK
    Clin Genet; 2016 Aug; 90(2):177-81. PubMed ID: 26662885
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Development of genetic markers in Eucalyptus species by target enrichment and exome sequencing.
    Dasgupta MG; Dharanishanthi V; Agarwal I; Krutovsky KV
    PLoS One; 2015; 10(1):e0116528. PubMed ID: 25602379
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genomic landscape of extraordinary responses in metastatic breast cancer.
    Lim SM; Kim E; Jung KH; Kim S; Koo JS; Kim SI; Park S; Park HS; Park BW; Cho YU; Kim JY; Paik S; Kwon NJ; Kim GM; Kim JH; Kim MH; Jeon MK; Kim S; Sohn J
    Commun Biol; 2021 Apr; 4(1):449. PubMed ID: 33837242
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.
    Eberle MA; Fritzilas E; Krusche P; Källberg M; Moore BL; Bekritsky MA; Iqbal Z; Chuang HY; Humphray SJ; Halpern AL; Kruglyak S; Margulies EH; McVean G; Bentley DR
    Genome Res; 2017 Jan; 27(1):157-164. PubMed ID: 27903644
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference.
    Cornish A; Guda C
    Biomed Res Int; 2015; 2015():456479. PubMed ID: 26539496
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.
    Demidov G; Laurie S; Torella A; Piluso G; Scala M; Morleo M; Nigro V; Graessner H; Banka S; ; Lohmann K; Ossowski S
    Eur J Hum Genet; 2024 Aug; 32(8):998-1004. PubMed ID: 38822122
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.
    Wang J; Yu H; Zhang VW; Tian X; Feng Y; Wang G; Gorman E; Wang H; Lutz RE; Schmitt ES; Peacock S; Wong LJ
    Genet Med; 2016 May; 18(5):513-21. PubMed ID: 26402642
    [TBL] [Abstract][Full Text] [Related]  

  • 18. DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
    Sommen M; Schrauwen I; Vandeweyer G; Boeckx N; Corneveaux JJ; van den Ende J; Boudewyns A; De Leenheer E; Janssens S; Claes K; Verstreken M; Strenzke N; Predöhl F; Wuyts W; Mortier G; Bitner-Glindzicz M; Moser T; Coucke P; Huentelman MJ; Van Camp G
    Hum Mutat; 2016 Aug; 37(8):812-9. PubMed ID: 27068579
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
    Qi Q; Jiang Y; Zhou X; Meng H; Hao N; Chang J; Bai J; Wang C; Wang M; Guo J; Ouyang Y; Xu Z; Xiao M; Zhang VW; Liu J
    Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33255631
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data.
    Kumaran M; Subramanian U; Devarajan B
    BMC Bioinformatics; 2019 Jun; 20(1):342. PubMed ID: 31208315
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.