Annotation and ranking of your SV are freely available under the Terms of Use.
Upon submission, a job ID will be provided to retrieve the results at a later time (results kept 15 days).
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SV input file
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SV coordinates
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Automatic loading of an SV input file example (VCF):
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SV input file options
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Phenotype-driven analysis (extracted from Exomiser) options
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General options
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Genes options
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Transcripts options
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Benign SV setting options
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Regulatory element options
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False positive deletion discovery options
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Compound heterozygosity analysis options
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