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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Veröffentlicht in:Genome Med
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: BioMed Central 2014
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Research
Online Zugang: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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