150 related articles for article (PubMed ID: 30483600)
1. ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.
Ruark E; Holt E; Renwick A; Münz M; Wakeling M; Ellard S; Mahamdallie S; Yost S; Rahman N
Wellcome Open Res; 2018; 3():108. PubMed ID: 30483600
[TBL] [Abstract][Full Text] [Related]
2. The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis.
Ruark E; Renwick A; Clarke M; Snape K; Ramsay E; Elliott A; Hanks S; Strydom A; Seal S; Rahman N
F1000Res; 2016; 5():386. PubMed ID: 27158454
[TBL] [Abstract][Full Text] [Related]
3. Benchmarking variant callers in next-generation and third-generation sequencing analysis.
Pei S; Liu T; Ren X; Li W; Chen C; Xie Z
Brief Bioinform; 2021 May; 22(3):. PubMed ID: 32698196
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Comparison of GATK and DeepVariant by trio sequencing.
Lin YL; Chang PC; Hsu C; Hung MZ; Chien YH; Hwu WL; Lai F; Lee NC
Sci Rep; 2022 Feb; 12(1):1809. PubMed ID: 35110657
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Variant callers for next-generation sequencing data: a comparison study.
Liu X; Han S; Wang Z; Gelernter J; Yang BZ
PLoS One; 2013; 8(9):e75619. PubMed ID: 24086590
[TBL] [Abstract][Full Text] [Related]
8. OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.
Ruark E; Münz M; Clarke M; Renwick A; Ramsay E; Elliott A; Seal S; Lunter G; Rahman N
Sci Rep; 2016 Aug; 6():31029. PubMed ID: 27485037
[TBL] [Abstract][Full Text] [Related]
9. Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panels.
Zanti M; Michailidou K; Loizidou MA; Machattou C; Pirpa P; Christodoulou K; Spyrou GM; Kyriacou K; Hadjisavvas A
BMC Bioinformatics; 2021 Apr; 22(1):218. PubMed ID: 33910496
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Validation and assessment of variant calling pipelines for next-generation sequencing.
Pirooznia M; Kramer M; Parla J; Goes FS; Potash JB; McCombie WR; Zandi PP
Hum Genomics; 2014 Jul; 8(1):14. PubMed ID: 25078893
[TBL] [Abstract][Full Text] [Related]
12. Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes.
Yeo ZX; Wong JC; Rozen SG; Lee AS
BMC Genomics; 2014 Jun; 15(1):516. PubMed ID: 24962530
[TBL] [Abstract][Full Text] [Related]
13. Detailed comparison of two popular variant calling packages for exome and targeted exon studies.
Warden CD; Adamson AW; Neuhausen SL; Wu X
PeerJ; 2014; 2():e600. PubMed ID: 25289185
[TBL] [Abstract][Full Text] [Related]
14. HELLO: improved neural network architectures and methodologies for small variant calling.
Ramachandran A; Lumetta SS; Klee EW; Chen D
BMC Bioinformatics; 2021 Aug; 22(1):404. PubMed ID: 34391391
[TBL] [Abstract][Full Text] [Related]
15. Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.
Cacheiro P; Ordóñez-Ugalde A; Quintáns B; Piñeiro-Hermida S; Amigo J; García-Murias M; Pascual-Pascual SI; Grandas F; Arpa J; Carracedo A; Sobrido MJ
Mol Diagn Ther; 2017 Jun; 21(3):303-313. PubMed ID: 28290094
[TBL] [Abstract][Full Text] [Related]
16. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.
O'Rawe J; Jiang T; Sun G; Wu Y; Wang W; Hu J; Bodily P; Tian L; Hakonarson H; Johnson WE; Wei Z; Wang K; Lyon GJ
Genome Med; 2013; 5(3):28. PubMed ID: 23537139
[TBL] [Abstract][Full Text] [Related]
17. Comparison of Read Mapping and Variant Calling Tools for the Analysis of Plant NGS Data.
Schilbert HM; Rempel A; Pucker B
Plants (Basel); 2020 Apr; 9(4):. PubMed ID: 32252268
[TBL] [Abstract][Full Text] [Related]
18. Systematic comparison of variant calling pipelines of target genome sequencing cross multiple next-generation sequencers.
Feng B; Lai J; Fan X; Liu Y; Wang M; Wu P; Zhou Z; Yan Q; Sun L
Front Genet; 2023; 14():1293974. PubMed ID: 38239851
[TBL] [Abstract][Full Text] [Related]
19. Systematic comparison of germline variant calling pipelines cross multiple next-generation sequencers.
Chen J; Li X; Zhong H; Meng Y; Du H
Sci Rep; 2019 Jun; 9(1):9345. PubMed ID: 31249349
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]