221 related articles for article (PubMed ID: 35753701)
1. A comprehensive benchmarking of WGS-based deletion structural variant callers.
Sarwal V; Niehus S; Ayyala R; Kim M; Sarkar A; Chang S; Lu A; Rajkumar N; Darfci-Maher N; Littman R; Chhugani K; Soylev A; Comarova Z; Wesel E; Castellanos J; Chikka R; Distler MG; Eskin E; Flint J; Mangul S
Brief Bioinform; 2022 Jul; 23(4):. PubMed ID: 35753701
[TBL] [Abstract][Full Text] [Related]
2. SV-AUTOPILOT: optimized, automated construction of structural variation discovery and benchmarking pipelines.
Leung WY; Marschall T; Paudel Y; Falquet L; Mei H; Schönhuth A; Maoz Moss TY
BMC Genomics; 2015 Mar; 16(1):238. PubMed ID: 25887570
[TBL] [Abstract][Full Text] [Related]
3. svclassify: a method to establish benchmark structural variant calls.
Parikh H; Mohiyuddin M; Lam HY; Iyer H; Chen D; Pratt M; Bartha G; Spies N; Losert W; Zook JM; Salit M
BMC Genomics; 2016 Jan; 17():64. PubMed ID: 26772178
[TBL] [Abstract][Full Text] [Related]
4. Comparison of structural variant callers for massive whole-genome sequence data.
Joe S; Park JL; Kim J; Kim S; Park JH; Yeo MK; Lee D; Yang JO; Kim SY
BMC Genomics; 2024 Mar; 25(1):318. PubMed ID: 38549092
[TBL] [Abstract][Full Text] [Related]
5. Systematic evaluation of multiple NGS platforms for structural variants detection.
Meng X; Wang M; Luo M; Sun L; Yan Q; Liu Y
J Biol Chem; 2023 Dec; 299(12):105436. PubMed ID: 37944616
[TBL] [Abstract][Full Text] [Related]
6. Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods.
Mu JC; Tootoonchi Afshar P; Mohiyuddin M; Chen X; Li J; Bani Asadi N; Gerstein MB; Wong WH; Lam HY
Sci Rep; 2015 Sep; 5():14493. PubMed ID: 26412485
[TBL] [Abstract][Full Text] [Related]
7. Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery.
Barbitoff YA; Abasov R; Tvorogova VE; Glotov AS; Predeus AV
BMC Genomics; 2022 Feb; 23(1):155. PubMed ID: 35193511
[TBL] [Abstract][Full Text] [Related]
8. Benchmarking long-read aligners and SV callers for structural variation detection in Oxford nanopore sequencing data.
Helal AA; Saad BT; Saad MT; Mosaad GS; Aboshanab KM
Sci Rep; 2024 Mar; 14(1):6160. PubMed ID: 38486064
[TBL] [Abstract][Full Text] [Related]
9. Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software.
Cameron DL; Di Stefano L; Papenfuss AT
Nat Commun; 2019 Jul; 10(1):3240. PubMed ID: 31324872
[TBL] [Abstract][Full Text] [Related]
10. Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing.
Kosugi S; Momozawa Y; Liu X; Terao C; Kubo M; Kamatani Y
Genome Biol; 2019 Jun; 20(1):117. PubMed ID: 31159850
[TBL] [Abstract][Full Text] [Related]
11. Structural Variant Detection from Long-Read Sequencing Data with cuteSV.
Jiang T; Liu S; Cao S; Wang Y
Methods Mol Biol; 2022; 2493():137-151. PubMed ID: 35751813
[TBL] [Abstract][Full Text] [Related]
12. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid BM; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Genome Med; 2019 Nov; 11(1):68. PubMed ID: 31694722
[TBL] [Abstract][Full Text] [Related]
13. Benchmarking of structural variant detection in the tetraploid potato genome using linked-read sequencing.
Weisweiler M; Stich B
Genomics; 2023 Mar; 115(2):110568. PubMed ID: 36702293
[TBL] [Abstract][Full Text] [Related]
14. Accuracy and efficiency of germline variant calling pipelines for human genome data.
Zhao S; Agafonov O; Azab A; Stokowy T; Hovig E
Sci Rep; 2020 Nov; 10(1):20222. PubMed ID: 33214604
[TBL] [Abstract][Full Text] [Related]
15. Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes.
Fatima N; Petri A; Gyllensten U; Feuk L; Ameur A
Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33266238
[TBL] [Abstract][Full Text] [Related]
16. NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data.
Fang L; Hu J; Wang D; Wang K
BMC Bioinformatics; 2018 May; 19(1):180. PubMed ID: 29792160
[TBL] [Abstract][Full Text] [Related]
17. Automated filtering of genome-wide large deletions through an ensemble deep learning framework.
Hu Y; Mangal S; Zhang L; Zhou X
Methods; 2022 Oct; 206():77-86. PubMed ID: 36038049
[TBL] [Abstract][Full Text] [Related]
18. Robust Benchmark Structural Variant Calls of An Asian Using State-of-the-art Long-read Sequencing Technologies.
Du X; Li L; Liang F; Liu S; Zhang W; Sun S; Sun Y; Fan F; Wang L; Liang X; Qiu W; Fan G; Wang O; Yang W; Zhang J; Xiao Y; Wang Y; Wang D; Qu S; Chen F; Huang J
Genomics Proteomics Bioinformatics; 2022 Feb; 20(1):192-204. PubMed ID: 33662625
[TBL] [Abstract][Full Text] [Related]
19. Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
Zhao X; Collins RL; Lee WP; Weber AM; Jun Y; Zhu Q; Weisburd B; Huang Y; Audano PA; Wang H; Walker M; Lowther C; Fu J; ; Gerstein MB; Devine SE; Marschall T; Korbel JO; Eichler EE; Chaisson MJP; Lee C; Mills RE; Brand H; Talkowski ME
Am J Hum Genet; 2021 May; 108(5):919-928. PubMed ID: 33789087
[TBL] [Abstract][Full Text] [Related]
20. Benchmarking Oxford Nanopore read alignment-based insertion and deletion detection in crop plant genomes.
Yildiz G; Zanini SF; Afsharyan NP; Obermeier C; Snowdon RJ; Golicz AA
Plant Genome; 2023 Jun; 16(2):e20314. PubMed ID: 36988043
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]