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Detection and quantification of mitochondrial DNA deletions from next-generation sequence data

BACKGROUND: Chromosomal deletions represent an important class of human genetic variation. Various methods have been developed to mine “next-generation” sequencing (NGS) data to detect deletions and quantify their clonal abundances. These methods have focused almost exclusively on the nuclear genome...

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Detalles Bibliográficos
Autores principales: Bosworth, Colleen M., Grandhi, Sneha, Gould, Meetha P., LaFramboise, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657046/
https://www.ncbi.nlm.nih.gov/pubmed/29072135
http://dx.doi.org/10.1186/s12859-017-1821-7