Fernandez-Orth D, Rueda M, Singh B, Moldes M, Jene A, Ferri M
Brief Bioinform. 2022; 23(3).
PMID: 35438138
PMC: 9116225.
DOI: 10.1093/bib/bbac136.
Ward A, Velinder M, Di Sera T, Ekawade A, Jenkins S, Moore B
J Pers Med. 2022; 12(1).
PMID: 35055388
PMC: 8780189.
DOI: 10.3390/jpm12010073.
Di Sera T, Velinder M, Ward A, Qiao Y, Georges S, Miller C
Sci Rep. 2021; 11(1):20307.
PMID: 34645894
PMC: 8514592.
DOI: 10.1038/s41598-021-99752-5.
Tekman M, Batut B, Ostrovsky A, Antoniewski C, Clements D, Ramirez F
Gigascience. 2020; 9(10).
PMID: 33079170
PMC: 7574357.
DOI: 10.1093/gigascience/giaa102.
Nattestad M, Aboukhalil R, Chin C, Schatz M
Bioinformatics. 2020; 37(3):413-415.
PMID: 32766814
PMC: 8058763.
DOI: 10.1093/bioinformatics/btaa680.
Pan-cancer analysis of whole genomes.
Nature. 2020; 578(7793):82-93.
PMID: 32025007
PMC: 7025898.
DOI: 10.1038/s41586-020-1969-6.
Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists.
Ekawade A, Velinder M, Ward A, DiSera T, Miller C, Qiao Y
BMC Med Genomics. 2019; 12(1):190.
PMID: 31829207
PMC: 6907284.
DOI: 10.1186/s12920-019-0641-1.
MySeq: privacy-protecting browser-based personal Genome analysis for genomics education and exploration.
Linderman M, McElroy L, Chang L
BMC Med Genomics. 2019; 12(1):172.
PMID: 31775760
PMC: 6882182.
DOI: 10.1186/s12920-019-0615-3.
Unraveling the Heterogeneous Mutational Signature of Spontaneously Developing Tumors in MLH1 Mice.
Gladbach Y, Wiegele L, Hamed M, Merkenschlager A, Fuellen G, Junghanss C
Cancers (Basel). 2019; 11(10).
PMID: 31581674
PMC: 6827043.
DOI: 10.3390/cancers11101485.
DNAscan: personal computer compatible NGS analysis, annotation and visualisation.
Iacoangeli A, Al Khleifat A, Sproviero W, Shatunov A, Jones A, Morgan S
BMC Bioinformatics. 2019; 20(1):213.
PMID: 31029080
PMC: 6487045.
DOI: 10.1186/s12859-019-2791-8.
Selection of computational environments for PSP processing on scientific gateways.
de Oliveira E, Estrella J, Delbem A, Nunes L, Shishido H, Reiff-Marganiec S
Heliyon. 2018; 4(7):e00690.
PMID: 30073212
PMC: 6068289.
DOI: 10.1016/j.heliyon.2018.e00690.
Rapid clinical diagnostic variant investigation of genomic patient sequencing data with web tools.
Ward A, Karren M, Di Sera T, Miller C, Velinder M, Qiao Y
J Clin Transl Sci. 2018; 1(6):381-386.
PMID: 29707261
PMC: 5915807.
DOI: 10.1017/cts.2017.311.
An architecture for genomics analysis in a clinical setting using Galaxy and Docker.
Digan W, Countouris H, Barritault M, Baudoin D, Laurent-Puig P, Blons H
Gigascience. 2017; 6(11):1-9.
PMID: 29048555
PMC: 5691353.
DOI: 10.1093/gigascience/gix099.
Indexcov: fast coverage quality control for whole-genome sequencing.
Pedersen B, Collins R, Talkowski M, Quinlan A
Gigascience. 2017; 6(11):1-6.
PMID: 29048539
PMC: 5737511.
DOI: 10.1093/gigascience/gix090.
Settling the score: variant prioritization and Mendelian disease.
Eilbeck K, Quinlan A, Yandell M
Nat Rev Genet. 2017; 18(10):599-612.
PMID: 28804138
PMC: 5935497.
DOI: 10.1038/nrg.2017.52.
A Primer on Infectious Disease Bacterial Genomics.
Lynch T, Petkau A, Knox N, Graham M, Van Domselaar G
Clin Microbiol Rev. 2017; 29(4):881-913.
PMID: 28590251
PMC: 5010755.
DOI: 10.1128/CMR.00001-16.
Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy.
Pedersen B, Quinlan A
Am J Hum Genet. 2017; 100(3):406-413.
PMID: 28190455
PMC: 5339084.
DOI: 10.1016/j.ajhg.2017.01.017.
Gigwa-Genotype investigator for genome-wide analyses.
Sempere G, Philippe F, Dereeper A, Ruiz M, Sarah G, Larmande P
Gigascience. 2016; 5:25.
PMID: 27267926
PMC: 4897896.
DOI: 10.1186/s13742-016-0131-8.
Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling.
Flygare S, Simmon K, Miller C, Qiao Y, Kennedy B, Di Sera T
Genome Biol. 2016; 17(1):111.
PMID: 27224977
PMC: 4880956.
DOI: 10.1186/s13059-016-0969-1.
The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2016 update.
Afgan E, Baker D, van den Beek M, Blankenberg D, Bouvier D, cech M
Nucleic Acids Res. 2016; 44(W1):W3-W10.
PMID: 27137889
PMC: 4987906.
DOI: 10.1093/nar/gkw343.
