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 *

163 related articles for article (PubMed ID: 36810122)

  • 1. FixItFelix: improving genomic analysis by fixing reference errors.
    Behera S; LeFaive J; Orchard P; Mahmoud M; Paulin LF; Farek J; Soto DC; Parker SCJ; Smith AV; Dennis MY; Zook JM; Sedlazeck FJ
    Genome Biol; 2023 Feb; 24(1):31. PubMed ID: 36810122
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A complete reference genome improves analysis of human genetic variation.
    Aganezov S; Yan SM; Soto DC; Kirsche M; Zarate S; Avdeyev P; Taylor DJ; Shafin K; Shumate A; Xiao C; Wagner J; McDaniel J; Olson ND; Sauria MEG; Vollger MR; Rhie A; Meredith M; Martin S; Lee J; Koren S; Rosenfeld JA; Paten B; Layer R; Chin CS; Sedlazeck FJ; Hansen NF; Miller DE; Phillippy AM; Miga KH; McCoy RC; Dennis MY; Zook JM; Schatz MC
    Science; 2022 Apr; 376(6588):eabl3533. PubMed ID: 35357935
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Improvements and impacts of GRCh38 human reference on high throughput sequencing data analysis.
    Guo Y; Dai Y; Yu H; Zhao S; Samuels DC; Shyr Y
    Genomics; 2017 Mar; 109(2):83-90. PubMed ID: 28131802
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The GIAB genomic stratifications resource for human reference genomes.
    Dwarshuis N; Kalra D; McDaniel J; Sanio P; Alvarez Jerez P; Jadhav B; Huang WE; Mondal R; Busby B; Olson ND; Sedlazeck FJ; Wagner J; Majidian S; Zook JM
    Nat Commun; 2024 Oct; 15(1):9029. PubMed ID: 39424793
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Improved sequence mapping using a complete reference genome and lift-over.
    Chen NC; Paulin LF; Sedlazeck FJ; Koren S; Phillippy AM; Langmead B
    Nat Methods; 2024 Jan; 21(1):41-49. PubMed ID: 38036856
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Enhancing Variant Calling in Whole-Exome Sequencing Data Using Population-Matched Reference Genomes.
    Guo S; Huang Z; Zhang Y; He Y; Chen X; Wang W; Li L; Kang Y; Gao Z; Yu J; Du Z; Chu Y
    Genomics Proteomics Bioinformatics; 2024 Oct; ():. PubMed ID: 39378130
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Localizing unmapped sequences with families to validate the Telomere-to-Telomere assembly and identify new hotspots for genetic diversity.
    Chrisman B; He C; Jung JY; Stockham N; Paskov K; Washington P; Petereit J; Wall DP
    Genome Res; 2023 Oct; 33(10):1734-1746. PubMed ID: 37879860
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The benefit of a complete reference genome for cancer structural variant analysis.
    Paulin LF; Fan J; O'Neill K; Pleasance E; Porter VL; Jones SJM; Sedlazeck FJ
    medRxiv; 2024 Mar; ():. PubMed ID: 38562786
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data.
    Ameur A; Che H; Martin M; Bunikis I; Dahlberg J; Höijer I; Häggqvist S; Vezzi F; Nordlund J; Olason P; Feuk L; Gyllensten U
    Genes (Basel); 2018 Oct; 9(10):. PubMed ID: 30304863
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Enhancing SNV identification in whole-genome sequencing data through the incorporation of known genetic variants into the minimap2 index.
    Guguchkin E; Kasianov A; Belenikin M; Zobkova G; Kosova E; Makeev V; Karpulevich E
    BMC Bioinformatics; 2024 Jul; 25(1):238. PubMed ID: 39003441
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of large-scale genomic differences in the first complete human genome.
    Yang X; Wang X; Zou Y; Zhang S; Xia M; Fu L; Vollger MR; Chen NC; Taylor DJ; Harvey WT; Logsdon GA; Meng D; Shi J; McCoy RC; Schatz MC; Li W; Eichler EE; Lu Q; Mao Y
    Genome Biol; 2023 Jul; 24(1):157. PubMed ID: 37403156
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A comparative investigation of single nucleotide variant calling for a personal non-Caucasian sequencing sample.
    Park H; Gim J
    Genes Genomics; 2023 Dec; 45(12):1527-1536. PubMed ID: 37651066
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
    Lansdon LA; Cadieux-Dion M; Herriges JC; Johnston J; Yoo B; Alaimo JT; Thiffault I; Miller N; Cohen ASA; Repnikova EA; Zhang L; Farooqi MS; Farrow EG; Saunders CJ
    Clin Chem; 2022 Sep; 68(9):1177-1183. PubMed ID: 35869940
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A reference-quality, fully annotated genome from a Puerto Rican individual.
    Zimin AV; Shumate A; Shinder I; Heinz J; Puiu D; Pertea M; Salzberg SL
    Genetics; 2022 Feb; 220(2):. PubMed ID: 34897437
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Inversion polymorphism in a complete human genome assembly.
    Porubsky D; Harvey WT; Rozanski AN; Ebler J; Höps W; Ashraf H; Hasenfeld P; ; ; Paten B; Sanders AD; Marschall T; Korbel JO; Eichler EE
    Genome Biol; 2023 Apr; 24(1):100. PubMed ID: 37122002
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Segmental duplications and their variation in a complete human genome.
    Vollger MR; Guitart X; Dishuck PC; Mercuri L; Harvey WT; Gershman A; Diekhans M; Sulovari A; Munson KM; Lewis AP; Hoekzema K; Porubsky D; Li R; Nurk S; Koren S; Miga KH; Phillippy AM; Timp W; Ventura M; Eichler EE
    Science; 2022 Apr; 376(6588):eabj6965. PubMed ID: 35357917
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Calling known variants and identifying new variants while rapidly aligning sequence data.
    VanRaden PM; Bickhart DM; O'Connell JR
    J Dairy Sci; 2019 Apr; 102(4):3216-3229. PubMed ID: 30772032
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Variant calling and benchmarking in an era of complete human genome sequences.
    Olson ND; Wagner J; Dwarshuis N; Miga KH; Sedlazeck FJ; Salit M; Zook JM
    Nat Rev Genet; 2023 Jul; 24(7):464-483. PubMed ID: 37059810
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Alignment of 1000 Genomes Project reads to reference assembly GRCh38.
    Zheng-Bradley X; Streeter I; Fairley S; Richardson D; Clarke L; Flicek P;
    Gigascience; 2017 Jul; 6(7):1-8. PubMed ID: 28531267
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.