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Bioinformatics for personal genome interpretation

E. Capriotti, N. L. Nehrt, M. G. Kann, Y. Bromberg
2012 Briefings in Bioinformatics  
In this work, we review the most important developments in the fieldçthe databases and bioinformatics tools that will be of utmost importance in our concerted effort to interpret the human variome.  ...  An international consortium released the first draft sequence of the human genome 10 years ago.  ...  GENETIC VARIANT INTERPRETATION The interpretation of the functional impact of genetic variation is one of the most important tasks in personal genomics and personalized medicine [129] .  ... 
doi:10.1093/bib/bbr070 pmid:22247263 pmcid:PMC3404395 fatcat:zdu5z4bbtncerp7cyw6mjrf3d4

Personal Cancer Genome Reporter: variant interpretation report for precision oncology

Sigve Nakken, Ghislain Fournous, Daniel Vodák, Lars Birger Aasheim, Ola Myklebost, Eivind Hovig, John Hancock
2017 Bioinformatics  
Individual tumor genomes pose a major challenge for clinical interpretation due to their unique sets of acquired mutations.  ...  Our application generates a tiered report that will aid the interpretation of individual cancer genomes in a clinical setting.  ...  Acknowledgement The authors wish to acknowledge collaborators within the Norwegian Cancer Genomics Consortium (NCGC).  ... 
doi:10.1093/bioinformatics/btx817 pmid:29272339 pmcid:PMC5946881 fatcat:zhyubgualjcuvgcggomwbuovmm

Bioinformatics approaches for Biomedical Research

Kasandra Aguilar Cázarez, Ernesto Andrade Collantes, Marisol Verdugo Meza, Claudia María de-la-Rocha-Morales, Cruz Fernando López-Carrera, Paúl Alexis López-Durán
2022 Proceedings of Scientific Research Universidad Anáhuac. Multidisciplinary Journal of Healthcare  
Along with this, comes a demand for the analysis and interpretation of the entirety of this biological information.  ...  design, and personalized medicine.  ...  In addition, bioinformatics provides results that are more accurate when assembling reliable interpretations.  ... 
doi:10.36105/psrua.2022v2n3.04 fatcat:gmc25ozxm5b7ngv64kscd5kd4a

Translational bioinformatics has now come of age: TBC 2012 collection

Ju Han Kim
2013 BMC Medical Genomics  
Personalized genomic and physiologic signatures Translational bioinformatics together with the '-omics' (genomics, transcriptomics, proteomics, and metabolomics) investigates the contribution of genes,  ...  Knowledge assembly for drug repositioning and rare variant interpretation Public databases and numerous biomedical knowledge resources are invaluable for a high profile translational bioinformatics research  ... 
doi:10.1186/1755-8794-6-s2-i1 pmid:23819773 pmcid:PMC3654868 fatcat:gpjk3x7iajh57pz2gbyvg6b7z4

Current methodologies for translational bioinformatics

Yves A. Lussier, Atul J. Butte, Lawrence Hunter
2010 Journal of Biomedical Informatics  
Haiquan Li for his critical review of the editorial.  ...  With the rapidly plunging costs of whole genome sequencing, the opportunities for translational bioinformatics discoveries to affect the interpretation of personal genome maps are escalating.  ...  We hope that this special issue will stimulate and catalyze translational bioinformatics research and development to embrace the era of personal and genomic medicine.  ... 
doi:10.1016/j.jbi.2010.05.002 pmid:20470899 pmcid:PMC2894568 fatcat:7r2kuprwjrh3nb6qhy2sowfdly

MOLGENIS/OMX for multi-omics and personalized medicine

Morris Swertz, K van der Velde
2015 Journal of Clinical Bioinformatics  
Figure 1 MOLGENIS/omx genome browser in the COL7A mutation database. Swertz and van der Velde Journal of Clinical Bioinformatics 2015, 5(Suppl 1):S5  ...  MOL-GENIS/omx most recent application is to facilitate interpretation of the massive amounts of genomics data, including eQTL pathogenicity predictions, and/or clinical interpretation of NGS data in research  ...  Description MOLGENIS/omx [1] is a generic toolbox for multi-omics and personalized medicine studies such as EU-Panacea, EU-BioSHaRE, EU-BioMedBridges, NL-String of Pearls, and CTMM/Triumph.  ... 
doi:10.1186/2043-9113-5-s1-s5 pmcid:PMC4460586 fatcat:m4meexfzn5f3fpxdjoggwbvuta

Managing Large-Scale Genomic Datasets and Translation into Clinical Practice

T. Lecroq, L. F. Soualmia
2014 IMIA Yearbook of Medical Informatics  
Indeed, there is a need for powerful tools for managing and interpreting complex data, but also a need for user-friendly tools developed for the clinicians in their daily practice.  ...  Results: The selection and evaluation process of this Yearbook's section on Bioinformatics and Translational Informatics yielded three excellent articles regarding data management and genome medicine.  ...  Acknowledgements We would like to acknowledge the valuable support of Martina Hutter and all the reviewers in the evaluation process of the section Bioinformatics and Translational Informatics of the IMIA  ... 
doi:10.15265/iy-2014-0039 pmid:25123745 pmcid:PMC4287066 fatcat:632h5quyizbntoavtpxk34bgni

Precision medicine needs pioneering clinical bioinformaticians

Gonzalo Gómez-López, Joaquín Dopazo, Juan C. Cigudosa, Alfonso Valencia, Fátima Al-Shahrour
2017 Briefings in Bioinformatics  
We also propose some skills required to carry out common tasks in clinical bioinformatics and some tips for emergent groups.  ...  Secondly, we review the currently ongoing clinical trials in precision medicine, introducing the concept of 'precision bioinformatics', and we describe current pioneering bioinformatics efforts aimed at  ...  Acknowledgements Authors would like to thank all members from CNIO Bioinformatics Unit for their comments, all of which have helped improve this manuscript.  ... 
doi:10.1093/bib/bbx144 pmid:29077790 fatcat:qvbvzunnavfcnjd7w5dqu3qp2m

SNPTrackTM : an integrated bioinformatics system for genetic association studies

Joshua Xu, Reagan Kelly, Guangxu Zhou, Steven A Turner, Don Ding, Stephen C Harris, Huixiao Hong, Hong Fang, Weida Tong
2012 Human Genomics  
The system integrates data management, analysis, and interpretation in a single platform for genetic association studies.  ...  With SNPTrack, users can do the entire stream of bioinformatics jobs for genetic association studies. SNPTrack is freely available to the public at  ...  A number of bioinformatics algorithms and tools have been developed for managing and analyzing genetic data as well as for interpreting genetic biomarkers.  ... 
doi:10.1186/1479-7364-6-5 pmid:23245293 pmcid:PMC3437569 fatcat:pl3uti5lbfdkpbu46s3unoih4a

Quantitative Proteomic Analysis of Histone Exchange and Chromatin Dynamics

Alan Tackett
2012 Journal of Proteomics & Bioinformatics  
Our study demonstrates that personal health monitoring with longitudinal iPOP could relate genomic information and global functional omics activity to physiological and medical interpretation, and eventually  ...  Comprehensive personal healthy monitoring is expected to benefit from combining genomic information with regular examination of physiological states by multiple high-throughput methods.  ...  Our study demonstrates that personal health monitoring with longitudinal iPOP could relate genomic information and global functional omics activity to physiological and medical interpretation, and eventually  ... 
doi:10.4172/0974-276x.s1.061 fatcat:alb7klmd7zbrjcsrbh7am3rypy

Next-generation sequencing technologies for personalized medicine: promising but challenging

Geng Chen, TieLiu Shi
2013 Science China Life Sciences  
To evaluate the effects and the quality of NGS technologies and the analytic bioinformatics pipelines for realizing personalized medicine, FDA (U.S.  ...  Personalized medicine refers to the right drug for the SPECIAL TOPIC right person at the right time with right dose.  ... 
doi:10.1007/s11427-013-4436-x pmid:23393024 fatcat:aq5govyy3rgobgztacrsll72g4

On Bioinformatic Resources

Runsheng Chen
2015 Genomics, Proteomics & Bioinformatics  
The ultimate goal of genomic data and bioinformatics is to pave a way for medicine to be personalized and more precision and thus the new path --precision medicine.  ...  The full interpretation should include all sequence elements of a genome.  ... 
doi:10.1016/j.gpb.2015.02.002 pmid:25743088 pmcid:PMC4411502 fatcat:nzqohfdnird3bd7r73dzmbnuu4

Recommended Basic Science Foundation Necessary to Prepare Pharmacists to Manage Personalized Pharmacotherapy

Larisa H Cavallari, Brian R Overholser, Douglas Anderson, Eric Boyce, Larry Buie, Christine M Formea, Jason C Gallagher, Mary S Hayney, Julie Oestreich
2010 Pharmacotherapy  
This commentary addresses four topics: personalized medicine concepts and terminology, with a focus on genomics; genomic applications in basic and applied pharmaceutical sciences; biotechnology; and bioinformatics  ...  Pharmacy students should undergo training for interpreting pharmacogenomic testing results.  ... 
doi:10.1592/phco.30.6.626 fatcat:nqkdjkgcwbf3zlg4ta7ojukcpq

Critical role of bioinformatics in translating huge amounts of next-generation sequencing data into personalized medicine

HuiXiao Hong, WenQian Zhang, Jie Shen, ZhenQiang Su, BaiTang Ning, Tao Han, Roger Perkins, LeMing Shi, WeiDa Tong
2013 Science China Life Sciences  
Bioinformatics is increasingly becoming the rate-limiting step with numerous challenges to be overcome for translating NGS data for personalized medicine.  ...  The most vital data are genomic information for individuals that are from advanced next-generation sequencing (NGS) technologies at present.  ...  Bioinformatics provides the hub and tools for data analysis, interpretation, and ultimately the translation of relevant data for personalizing clinical medicine.  ... 
doi:10.1007/s11427-013-4439-7 pmid:23393026 fatcat:vcqlmr5yffb45fu3y3v6f62qwy

Connecting the dots in translational bioinformatics: TBC 2014 collection

Ju Han Kim
2015 BMC Medical Genomics  
., Korea) proposed a computational scheme to connect individual personal genomes to disease predispositions for the purpose of personal genome interpretation [5] .  ...  Despite of comprehensive databases and bioinformatics tools for analyzing genetic variants, genome interpretation at the personal level still remains a challenging goal. Na et al.  ... 
doi:10.1186/1755-8794-8-s2-i1 pmid:26043981 pmcid:PMC4460929 fatcat:ubizrvlzubcjpofjoteye6jx74
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