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Reducing INDEL calling errors in whole genome and exome sequencing data

BACKGROUND: INDELs, especially those disrupting protein-coding regions of the genome, have been strongly associated with human diseases. However, there are still many errors with INDEL variant calling, driven by library preparation, sequencing biases, and algorithm artifacts. METHODS: We characteriz...

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Detalles Bibliográficos
Autores principales: Fang, Han, Wu, Yiyang, Narzisi, Giuseppe, O’Rawe, Jason A, Barrón, Laura T Jimenez, Rosenbaum, Julie, Ronemus, Michael, Iossifov, Ivan, Schatz, Michael C, Lyon, Gholson J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240813/
https://www.ncbi.nlm.nih.gov/pubmed/25426171
http://dx.doi.org/10.1186/s13073-014-0089-z