The eSNV-Detect is a method to detect expressed single nucleotide variants (eSNVs) with high specificity and sensitivity from the high throughput transcriptome sequencing data. Alignments from multiple aligers are used to cover the aligner bias and multiple genomic features are used to improve the specificity. For the expressed SNVs detected, it can also identify the amino acid change and classify the protein domains.
Bioinformatics Program, Division of Biomedical Statistics and Informatics, Mayo Clinic Research
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Nucleic Acids Res. 2014 Oct 28. pii: gku1005.
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X, Baheti S1, Shameer K, Thompson KJ, Wills Q, Niu N, Holcomb IN, Boutet SC, Ramakrishnan R, Kachergus JM, Kocher JP, Weinshilboum RM, Wang L, Thompson EA, Kalari KR