EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics
<p>Abstract</p> <p>Background</p> <p>Whole exome sequencing (WES) has become the strategy of choice to identify a coding allelic variant for a rare human monogenic disorder. This approach is a revolution in medical genetics history, impacting both fundamental research,...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2012-09-01
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| Series: | BMC Bioinformatics |