207 related articles for article (PubMed ID: 30998956)
1. On the critical evaluation and confirmation of germline sequence variants identified using massively parallel sequencing.
Kubiritova Z; Gyuraszova M; Nagyova E; Hyblova M; Harsanyova M; Budis J; Hekel R; Gazdarica J; Duris F; Kadasi L; Szemes T; Radvanszky J
J Biotechnol; 2019 Jun; 298():64-75. PubMed ID: 30998956
[TBL] [Abstract][Full Text] [Related]
2. UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing.
Park DJ; Li R; Lau E; Georgeson P; Nguyen-Dumont T; Pope BJ
BMC Bioinformatics; 2016 Apr; 17():165. PubMed ID: 27083325
[TBL] [Abstract][Full Text] [Related]
3. Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data: An Alternative to Routine Sanger Sequencing Confirmation with Equivalent Results in >15,000 Germline DNA Screens.
Muzzey D; Kash S; Johnson JI; Melroy LM; Kaleta P; Pierce KA; Ready K; Kang HP; Haas KR
J Mol Diagn; 2019 Mar; 21(2):296-306. PubMed ID: 30529126
[TBL] [Abstract][Full Text] [Related]
4. An investigation of causes of false positive single nucleotide polymorphisms using simulated reads from a small eukaryote genome.
Ribeiro A; Golicz A; Hackett CA; Milne I; Stephen G; Marshall D; Flavell AJ; Bayer M
BMC Bioinformatics; 2015 Nov; 16():382. PubMed ID: 26558718
[TBL] [Abstract][Full Text] [Related]
5. VirVarSeq: a low-frequency virus variant detection pipeline for Illumina sequencing using adaptive base-calling accuracy filtering.
Verbist BM; Thys K; Reumers J; Wetzels Y; Van der Borght K; Talloen W; Aerssens J; Clement L; Thas O
Bioinformatics; 2015 Jan; 31(1):94-101. PubMed ID: 25178459
[TBL] [Abstract][Full Text] [Related]
6. Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.
Beck TF; Mullikin JC; ; Biesecker LG
Clin Chem; 2016 Apr; 62(4):647-54. PubMed ID: 26847218
[TBL] [Abstract][Full Text] [Related]
7. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.
Strom SP; Lee H; Das K; Vilain E; Nelson SF; Grody WW; Deignan JL
Genet Med; 2014 Jul; 16(7):510-5. PubMed ID: 24406459
[TBL] [Abstract][Full Text] [Related]
8. Underlying Data for Sequencing the Mitochondrial Genome with the Massively Parallel Sequencing Platform Ion Torrent™ PGM™.
Seo SB; Zeng X; King JL; Larue BL; Assidi M; Al-Qahtani MH; Sajantila A; Budowle B
BMC Genomics; 2015; 16 Suppl 1(Suppl 1):S4. PubMed ID: 25924014
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. PhredEM: a phred-score-informed genotype-calling approach for next-generation sequencing studies.
Liao P; Satten GA; Hu YJ
Genet Epidemiol; 2017 Jul; 41(5):375-387. PubMed ID: 28560825
[TBL] [Abstract][Full Text] [Related]
11. Accurate genotyping across variant classes and lengths using variant graphs.
Sibbesen JA; Maretty L; ; Krogh A
Nat Genet; 2018 Jul; 50(7):1054-1059. PubMed ID: 29915429
[TBL] [Abstract][Full Text] [Related]
12. A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.
Sun JX; He Y; Sanford E; Montesion M; Frampton GM; Vignot S; Soria JC; Ross JS; Miller VA; Stephens PJ; Lipson D; Yelensky R
PLoS Comput Biol; 2018 Feb; 14(2):e1005965. PubMed ID: 29415044
[TBL] [Abstract][Full Text] [Related]
13. Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development.
Margraf RL; Durtschi JD; Dames S; Pattison DC; Stephens JE; Mao R; Voelkerding KV
J Biomol Tech; 2010 Sep; 21(3):126-40. PubMed ID: 20808642
[TBL] [Abstract][Full Text] [Related]
14. TIA: algorithms for development of identity-linked SNP islands for analysis by massively parallel DNA sequencing.
Farris MH; Scott AR; Texter PA; Bartlett M; Coleman P; Masters D
BMC Bioinformatics; 2018 Apr; 19(1):126. PubMed ID: 29642839
[TBL] [Abstract][Full Text] [Related]
15. tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.
Gillies CE; Otto EA; Vega-Warner V; Robertson CC; Sanna-Cherchi S; Gharavi A; Crawford B; Bhimma R; Winkler C; ; ; Kang HM; Sampson MG
BMC Bioinformatics; 2016 Jun; 17(1):233. PubMed ID: 27287006
[TBL] [Abstract][Full Text] [Related]
16. Qualitative and quantitative assessment of Illumina's forensic STR and SNP kits on MiSeq FGx™.
Sharma V; Chow HY; Siegel D; Wurmbach E
PLoS One; 2017; 12(11):e0187932. PubMed ID: 29121662
[TBL] [Abstract][Full Text] [Related]
17. Low-depth genotyping-by-sequencing (GBS) in a bovine population: strategies to maximize the selection of high quality genotypes and the accuracy of imputation.
Brouard JS; Boyle B; Ibeagha-Awemu EM; Bissonnette N
BMC Genet; 2017 Apr; 18(1):32. PubMed ID: 28381212
[TBL] [Abstract][Full Text] [Related]
18. Mitigating the effects of reference sequence bias in single-multiplex massively parallel sequencing of the mitochondrial DNA control region.
Huszar TI; Wetton JH; Jobling MA
Forensic Sci Int Genet; 2019 May; 40():9-17. PubMed ID: 30682697
[TBL] [Abstract][Full Text] [Related]
19. Fast read alignment with incorporation of known genomic variants.
Guo H; Liu B; Guan D; Fu Y; Wang Y
BMC Med Inform Decis Mak; 2019 Dec; 19(Suppl 6):265. PubMed ID: 31856811
[TBL] [Abstract][Full Text] [Related]
20. Application of massively parallel sequencing (MPS) in paternity testing - case report.
Kostrzewa G; Konarzewska M; Pepiński W
Arch Med Sadowej Kryminol; 2017; 67(1):61-67. PubMed ID: 28972359
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]