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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Publicat a:Genome Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Research
Accés en línia: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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