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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Vydáno v:Genome Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
Témata:
Research
On-line přístup: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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