Schwarz, Jana Marie and Luepken, Richard and Seelow, Dominik and Kehr, Birte (2021) Novel sequencing technologies and bioinformatic tools for deciphering the non-coding genome. MEDIZINISCHE GENETIK, 33 (2). pp. 133-145. ISSN 0936-5931, 1863-5490
Full text not available from this repository. (Request a copy)Abstract
High-throughput sequencing techniques have significantly increased the molecular diagnosis rate for patients with monogenic disorders. This is primarily due to a substantially increased identification rate of disease mutations in the coding sequence, primarily SNVs and indels. Further progress is hampered by difficulties in the detection of structural variants and the interpretation of variants outside the coding sequence. In this review, we provide an overview about how novel sequencing techniques and state-of-the-art algorithms can be used to discover small and structural variants across the whole genome and introduce bioinformatic tools for the prediction of effects variants may have in the non-coding part of the genome.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DISEASE; whole genome sequencing; variant detection; structural variants; non-coding variants; bioinformatics |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Zentren des Universitätsklinikums Regensburg > Regensburger Centrum für Interventionelle Immunologie (RCI) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 06 Sep 2022 08:20 |
| Last Modified: | 06 Sep 2022 08:20 |
| URI: | https://pred.uni-regensburg.de/id/eprint/46668 |
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