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Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data
BACKGROUND: Copy number variants (CNVs) play a significant role in human heredity and disease. However, sensitive and specific characterization of germline CNVs from NGS data has remained challenging, particularly for hybridization-capture data in which read counts are the primary source of copy num...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297596/ https://www.ncbi.nlm.nih.gov/pubmed/35854218 http://dx.doi.org/10.1186/s12859-022-04820-w |