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CopyDetective: Detection threshold–aware copy number variant calling in whole-exome sequencing data
BACKGROUND: Copy number variants (CNVs) are known to play an important role in the development and progression of several diseases. However, detection of CNVs with whole-exome sequencing (WES) experiments is challenging. Usually, additional experiments have to be performed. FINDINGS: We developed a...
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| Publicado no: | Gigascience |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7604644/ https://ncbi.nlm.nih.gov/pubmed/33135740 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/gigascience/giaa118 |
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