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MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data

The growing number of next-generation sequencing (NGS) data presents a unique opportunity to study the combined impact of mitochondrial and nuclear-encoded genetic variation in complex disease. Mitochondrial DNA variants and in particular, heteroplasmic variants, are critical for determining human d...

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Detalles Bibliográficos
Autores principales: Singh, Larry N., Ennis, Brian, Loneragan, Bryn, Tsao, Noah L., Lopez Sanchez, M. Isabel G., Li, Jianping, Acheampong, Patrick, Tran, Oanh, Trounce, Ian A., Zhu, Yuankun, Potluri, Prasanth, Emanuel, Beverly S., Rader, Daniel J., Arany, Zoltan, Damrauer, Scott M., Resnick, Adam C., Anderson, Stewart A., Wallace, Douglas C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8610268/
https://www.ncbi.nlm.nih.gov/pubmed/34762648
http://dx.doi.org/10.1371/journal.pcbi.1009594