Detection of simple and complex de novo mutations with multiple reference sequences

The characterization of de novo mutations in regions of high sequence and structural diversity from whole-genome sequencing data remains highly challenging. Complex structural variants tend to arise in regions of high repetitiveness and low complexity, challenging both de novo assembly, in which sho...

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Detalles Bibliográficos
Autores principales: Garimella, Kiran V., Iqbal, Zamin, Krause, Michael A., Campino, Susana, Kekre, Mihir, Drury, Eleanor, Kwiatkowski, Dominic, Sá, Juliana M., Wellems, Thomas E., McVean, Gil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462078/
https://www.ncbi.nlm.nih.gov/pubmed/32817236
http://dx.doi.org/10.1101/gr.255505.119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462078/
https://www.ncbi.nlm.nih.gov/pubmed/32817236
http://dx.doi.org/10.1101/gr.255505.119

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