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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Publicado en:Genome Med
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: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4240813/
https://ncbi.nlm.nih.gov/pubmed/25426171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-014-0089-z
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