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.
508 related articles for article (PubMed ID: 26258291)
1. SpeedSeq: ultra-fast personal genome analysis and interpretation. Chiang C; Layer RM; Faust GG; Lindberg MR; Rose DB; Garrison EP; Marth GT; Quinlan AR; Hall IM Nat Methods; 2015 Oct; 12(10):966-8. PubMed ID: 26258291 [TBL] [Abstract][Full Text] [Related]
2. [Application of BIG-Annotator in the genome sequencing data functional annotation and genetic diagnosis]. Huang Y; Liu Q; Chi LJ; Shi CM; Wu Z; Hu M; Shi H; Chen H Yi Chuan; 2018 Nov; 40(11):1015-1023. PubMed ID: 30465534 [TBL] [Abstract][Full Text] [Related]
4. SNP-SVant: A Computational Workflow to Predict and Annotate Genomic Variants in Organisms Lacking Benchmarked Variants. Gunasekaran D; Ardell DH; Nobile CJ Curr Protoc; 2024 May; 4(5):e1046. PubMed ID: 38717471 [TBL] [Abstract][Full Text] [Related]
5. A survey of tools for variant analysis of next-generation genome sequencing data. Pabinger S; Dander A; Fischer M; Snajder R; Sperk M; Efremova M; Krabichler B; Speicher MR; Zschocke J; Trajanoski Z Brief Bioinform; 2014 Mar; 15(2):256-78. PubMed ID: 23341494 [TBL] [Abstract][Full Text] [Related]
6. AnnTools: a comprehensive and versatile annotation toolkit for genomic variants. Makarov V; O'Grady T; Cai G; Lihm J; Buxbaum JD; Yoon S Bioinformatics; 2012 Mar; 28(5):724-5. PubMed ID: 22257670 [TBL] [Abstract][Full Text] [Related]
7. Open-Sourced CIViC Annotation Pipeline to Identify and Annotate Clinically Relevant Variants Using Single-Molecule Molecular Inversion Probes. Barnell EK; Waalkes A; Mosior MC; Penewit K; Cotto KC; Danos AM; Sheta LM; Campbell KM; Krysiak K; Rieke D; Spies NC; Skidmore ZL; Pritchard CC; Fehniger TA; Uppaluri R; Govindan R; Griffith M; Salipante SJ; Griffith OL JCO Clin Cancer Inform; 2019 Oct; 3():1-12. PubMed ID: 31618044 [TBL] [Abstract][Full Text] [Related]
8. Performance Characteristics of a Targeted Sequencing Platform for Simultaneous Detection of Single Nucleotide Variants, Insertions/Deletions, Copy Number Alterations, and Gene Fusions in Cancer Genome. Park K; Tran H; Eng KW; Ramazanoglu S; Marrero Rolon RM; Scognamiglio T; Borczuk A; Mosquera JM; Pan Q; Sboner A; Rubin MA; Elemento O; Rennert H; Fernandes H; Song W Arch Pathol Lab Med; 2020 Dec; 144(12):1535-1546. PubMed ID: 32045275 [TBL] [Abstract][Full Text] [Related]
9. OVarFlow: a resource optimized GATK 4 based Open source Variant calling workFlow. Bathke J; Lühken G BMC Bioinformatics; 2021 Aug; 22(1):402. PubMed ID: 34388963 [TBL] [Abstract][Full Text] [Related]
10. NGS for Sequence Variants. Teng S Adv Exp Med Biol; 2016; 939():1-20. PubMed ID: 27807741 [TBL] [Abstract][Full Text] [Related]
11. Pitfalls in variant annotation for hereditary cancer diagnostics: The example of Illumina® VariantStudio®. Kalfakakou D; Konstantopoulou I; Yannoukakos D; Fostira F Genomics; 2021 Jan; 113(1 Pt 2):748-754. PubMed ID: 33053411 [TBL] [Abstract][Full Text] [Related]
12. A uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals. Chen J; Rozowsky J; Galeev TR; Harmanci A; Kitchen R; Bedford J; Abyzov A; Kong Y; Regan L; Gerstein M Nat Commun; 2016 Apr; 7():11101. PubMed ID: 27089393 [TBL] [Abstract][Full Text] [Related]
13. GenomeVIP: a cloud platform for genomic variant discovery and interpretation. Mashl RJ; Scott AD; Huang KL; Wyczalkowski MA; Yoon CJ; Niu B; DeNardo E; Yellapantula VD; Handsaker RE; Chen K; Koboldt DC; Ye K; Fenyö D; Raphael BJ; Wendl MC; Ding L Genome Res; 2017 Aug; 27(8):1450-1459. PubMed ID: 28522612 [TBL] [Abstract][Full Text] [Related]
14. STRAS:a snakemake pipeline for genome-wide short tandem repeats annotation and score. Zhang M Hum Genet; 2024 Jun; 143(6):735-738. PubMed ID: 38507015 [TBL] [Abstract][Full Text] [Related]
15. Variant Call Format-Diagnostic Annotation and Reporting Tool: A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data. Benton MC; Smith RA; Haupt LM; Sutherland HG; Dunn PJ; Albury CL; Maksemous N; Lea R; Griffiths L J Mol Diagn; 2019 Nov; 21(6):951-960. PubMed ID: 31442673 [TBL] [Abstract][Full Text] [Related]
16. Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays. Krishnan V; Utiramerur S; Ng Z; Datta S; Snyder MP; Ashley EA BMC Bioinformatics; 2021 Feb; 22(1):85. PubMed ID: 33627090 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Comprehensive fundamental somatic variant calling and quality management strategies for human cancer genomes. He X; Chen S; Li R; Han X; He Z; Yuan D; Zhang S; Duan X; Niu B Brief Bioinform; 2021 May; 22(3):. PubMed ID: 32510555 [TBL] [Abstract][Full Text] [Related]
19. Current trend of annotating single nucleotide variation in humans--A case study on SNVrap. Li MJ; Wang J Methods; 2015 Jun; 79-80():32-40. PubMed ID: 25308971 [TBL] [Abstract][Full Text] [Related]
20. Beyond sequencing: re-visiting annotations for PJL as a test case. Khan W; Ghani A; Azmi MB; Razzak SA BMC Res Notes; 2019 Jul; 12(1):467. PubMed ID: 31366397 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]