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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...

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Detalles Bibliográficos
Autores principales:	Khayat, Michael M., Sahraeian, Sayed Mohammad Ebrahim, Zarate, Samantha, Carroll, Andrew, Hong, Huixiao, Pan, Bohu, Shi, Leming, Gibbs, Richard A., Mohiyuddin, Marghoob, Zheng, Yuanting, Sedlazeck, Fritz J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
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

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