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Hidden biases in germline structural variant detection
BACKGROUND: Genomic structural variations (SV) are important determinants of genotypic and phenotypic changes in many organisms. However, the detection of SV from next-generation sequencing data remains challenging. RESULTS: In this study, DNA from a Chinese family quartet is sequenced at three diff...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686633/ https://www.ncbi.nlm.nih.gov/pubmed/34930391 http://dx.doi.org/10.1186/s13059-021-02558-x |