Journal article
Choice of transcripts and software has a large effect on variant annotation.
- Abstract:
-
Variant annotation is a crucial step in the analysis of genome sequencing data. Functional annotation results can have a strong influence on the ultimate conclusions of disease studies. Incorrect or incomplete annotations can cause researchers both to overlook potentially disease-relevant DNA variants and to dilute interesting variants in a pool of false positives. Researchers are aware of these issues in general, but the extent of the dependency of final results on the choice of transcripts ...
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- Publication status:
- Published
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- Publisher copy:
- 10.1186/gm543
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Authors
Bibliographic Details
- Journal:
- Genome medicine
- Volume:
- 6
- Issue:
- 3
- Pages:
- 26
- Publication date:
- 2014-01-01
- DOI:
- EISSN:
-
1756-994X
- ISSN:
-
1756-994X
- Source identifiers:
-
469369
Item Description
- Language:
- English
- Pubs id:
-
pubs:469369
- UUID:
-
uuid:a8960e44-f2bc-41cf-9dfb-8b32f01bf441
- Local pid:
- pubs:469369
- Deposit date:
- 2014-08-22
Terms of use
- Copyright date:
- 2014
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