Choice of transcripts and software has a large effect on variant annotation.
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 varian...
| Main Authors: | , , , , , , |
|---|---|
| פורמט: | Journal article |
| שפה: | English |
| יצא לאור: |
2014
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