260 related articles for article (PubMed ID: 30323186)
1. Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer.
Katainen R; Donner I; Cajuso T; Kaasinen E; Palin K; Mäkinen V; Aaltonen LA; Pitkänen E
Nat Protoc; 2018 Nov; 13(11):2580-2600. PubMed ID: 30323186
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.
Wünsch C; Banck H; Müller-Tidow C; Dugas M
BMC Med Genomics; 2020 Feb; 13(1):17. PubMed ID: 32019565
[TBL] [Abstract][Full Text] [Related]
4. Annotation of Variant Data from High-Throughput DNA Sequencing from Tumor Specimens: Filtering Strategies to Identify Driver Mutations.
Sun S; Thorson JA; Murray SS
Methods Mol Biol; 2019; 1908():49-60. PubMed ID: 30649720
[TBL] [Abstract][Full Text] [Related]
5. Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.
Hovelson DH; McDaniel AS; Cani AK; Johnson B; Rhodes K; Williams PD; Bandla S; Bien G; Choppa P; Hyland F; Gottimukkala R; Liu G; Manivannan M; Schageman J; Ballesteros-Villagrana E; Grasso CS; Quist MJ; Yadati V; Amin A; Siddiqui J; Betz BL; Knudsen KE; Cooney KA; Feng FY; Roh MH; Nelson PS; Liu CJ; Beer DG; Wyngaard P; Chinnaiyan AM; Sadis S; Rhodes DR; Tomlins SA
Neoplasia; 2015 Apr; 17(4):385-99. PubMed ID: 25925381
[TBL] [Abstract][Full Text] [Related]
6. JWES: a new pipeline for whole genome/exome sequence data processing, management, and gene-variant discovery, annotation, prediction, and genotyping.
Ahmed Z; Renart EG; Mishra D; Zeeshan S
FEBS Open Bio; 2021 Sep; 11(9):2441-2452. PubMed ID: 34370400
[TBL] [Abstract][Full Text] [Related]
7. mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.
Li J; Jiang Y; Wang T; Chen H; Xie Q; Shao Q; Ran X; Xia K; Sun ZS; Wu J
J Med Genet; 2015 Apr; 52(4):275-81. PubMed ID: 25596308
[TBL] [Abstract][Full Text] [Related]
8. Genome analysis and knowledge-driven variant interpretation with TGex.
Dahary D; Golan Y; Mazor Y; Zelig O; Barshir R; Twik M; Iny Stein T; Rosner G; Kariv R; Chen F; Zhang Q; Shen Y; Safran M; Lancet D; Fishilevich S
BMC Med Genomics; 2019 Dec; 12(1):200. PubMed ID: 31888639
[TBL] [Abstract][Full Text] [Related]
9. MutSpec: a Galaxy toolbox for streamlined analyses of somatic mutation spectra in human and mouse cancer genomes.
Ardin M; Cahais V; Castells X; Bouaoun L; Byrnes G; Herceg Z; Zavadil J; Olivier M
BMC Bioinformatics; 2016 Apr; 17():170. PubMed ID: 27091472
[TBL] [Abstract][Full Text] [Related]
10. Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
de Leng WW; Gadellaa-van Hooijdonk CG; Barendregt-Smouter FA; Koudijs MJ; Nijman I; Hinrichs JW; Cuppen E; van Lieshout S; Loberg RD; de Jonge M; Voest EE; de Weger RA; Steeghs N; Langenberg MH; Sleijfer S; Willems SM; Lolkema MP
PLoS One; 2016; 11(2):e0149405. PubMed ID: 26919633
[TBL] [Abstract][Full Text] [Related]
11. Clinical relevance of cancer genome sequencing.
Ku CS; Cooper DN; Roukos DH
World J Gastroenterol; 2013 Apr; 19(13):2011-8. PubMed ID: 23599619
[TBL] [Abstract][Full Text] [Related]
12. Computational approaches for discovery of mutational signatures in cancer.
Baez-Ortega A; Gori K
Brief Bioinform; 2019 Jan; 20(1):77-88. PubMed ID: 28968631
[TBL] [Abstract][Full Text] [Related]
13. MutAid: Sanger and NGS Based Integrated Pipeline for Mutation Identification, Validation and Annotation in Human Molecular Genetics.
Pandey RV; Pabinger S; Kriegner A; Weinhäusel A
PLoS One; 2016; 11(2):e0147697. PubMed ID: 26840129
[TBL] [Abstract][Full Text] [Related]
14. JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data.
Roth A; Ding J; Morin R; Crisan A; Ha G; Giuliany R; Bashashati A; Hirst M; Turashvili G; Oloumi A; Marra MA; Aparicio S; Shah SP
Bioinformatics; 2012 Apr; 28(7):907-13. PubMed ID: 22285562
[TBL] [Abstract][Full Text] [Related]
15. SiNVICT: ultra-sensitive detection of single nucleotide variants and indels in circulating tumour DNA.
Kockan C; Hach F; Sarrafi I; Bell RH; McConeghy B; Beja K; Haegert A; Wyatt AW; Volik SV; Chi KN; Collins CC; Sahinalp SC
Bioinformatics; 2017 Jan; 33(1):26-34. PubMed ID: 27531099
[TBL] [Abstract][Full Text] [Related]
16. The challenge for the next generation of medical geneticists.
Frebourg T
Hum Mutat; 2014 Aug; 35(8):909-11. PubMed ID: 24838402
[TBL] [Abstract][Full Text] [Related]
17. Semi-automated cancer genome analysis using high-performance computing.
Crispatzu G; Kulkarni P; Toliat MR; Nürnberg P; Herling M; Herling CD; Frommolt P
Hum Mutat; 2017 Oct; 38(10):1325-1335. PubMed ID: 28598576
[TBL] [Abstract][Full Text] [Related]
18. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
[TBL] [Abstract][Full Text] [Related]
19. VaDiR: an integrated approach to Variant Detection in RNA.
Neums L; Suenaga S; Beyerlein P; Anders S; Koestler D; Mariani A; Chien J
Gigascience; 2018 Feb; 7(2):1-13. PubMed ID: 29267927
[TBL] [Abstract][Full Text] [Related]
20. DaMold: A data-mining platform for variant annotation and visualization in molecular diagnostics research.
Pandey RV; Pabinger S; Kriegner A; Weinhäusel A
Hum Mutat; 2017 Jul; 38(7):778-787. PubMed ID: 28397319
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]