copy-number-variation topic

List copy-number-variation repositories

ClassifyCNV

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ClassifyCNV: a tool for clinical annotation of copy-number variants

DeepSVP

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4
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Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity

VisCap

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VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number variants (CNVs) from targeted next-generation sequencing data. Fo...

Postre

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1
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POSTRE: Prediction Of STRuctural variant Effects

sequenza

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2
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Workflow for Sequenza, cellularity and ploidy

genome-seek

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9
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Clinical Whole Genome and Exome Sequencing Pipeline