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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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Journal:
Genome medicine
Volume:
6
Issue:
3
Pages:
26
Publication date:
2014-01-01
DOI:
EISSN:
1756-994X
ISSN:
1756-994X
Source identifiers:
469369
Language:
English
Pubs id:
pubs:469369
UUID:
uuid:a8960e44-f2bc-41cf-9dfb-8b32f01bf441
Local pid:
pubs:469369
Deposit date:
2014-08-22

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