Merkelbach-Bruse, S., Rehker, J., Siemanowski, J. and Klauschen, F. (2019). Detection and interpretation of somatic variants inmolecular pathology. Pathologe, 40 (3). S. 243 - 250. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-1963
Full text not available from this repository.Abstract
BackgroundDue to the increasing amount of data and sources of information, data evaluation is acrucial step in parallel sequencing.ObjectivesIllustration of pitfalls in evaluating the variant list of parallel sequencing and recommendations regarding software tools and databases.MethodsDescription of filtering steps used, demonstration of criteria and recommendations for annotation by examples from everyday work, comparative analysis of databases with somatic variants, description of the installation of an individualized database.ResultsVariant filtering is amultistep process using information from different databases. The plausibility of variant calling should be verified using the Integrative Genomics Viewer and variants should be described according to the Human Genome Variation Society (HGVS) recommendations. Different databases, which all show advantages and disadvantages, are available for variant interpretation. An individualized database can be built up with the open-source tool cBioPortal.ConclusionsDifferent tools and databases might be used for the analysis of parallel sequencing data. The application depends on, amongst other things, the local situation and has to be extensively validated.
| Item Type: | Journal Article | ||||||||||||||||||||
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| URN: | urn:nbn:de:hbz:38-149310 | ||||||||||||||||||||
| DOI: | 10.1007/s00292-019-0603-6 | ||||||||||||||||||||
| Journal or Publication Title: | Pathologe | ||||||||||||||||||||
| Volume: | 40 | ||||||||||||||||||||
| Number: | 3 | ||||||||||||||||||||
| Page Range: | S. 243 - 250 | ||||||||||||||||||||
| Date: | 2019 | ||||||||||||||||||||
| Publisher: | SPRINGER HEIDELBERG | ||||||||||||||||||||
| Place of Publication: | HEIDELBERG | ||||||||||||||||||||
| ISSN: | 1432-1963 | ||||||||||||||||||||
| Language: | German | ||||||||||||||||||||
| Faculty: | Unspecified | ||||||||||||||||||||
| Divisions: | Unspecified | ||||||||||||||||||||
| Subjects: | no entry | ||||||||||||||||||||
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| Refereed: | Yes | ||||||||||||||||||||
| URI: | http://kups.ub.uni-koeln.de/id/eprint/14931 |
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