4.7 Article

In-depth annotation of SNPs arising from resequencing projects using NGS-SNP

Journal

BIOINFORMATICS
Volume 27, Issue 16, Pages 2300-2301

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btr372

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Funding

  1. Alberta Livestock and Meat Agency
  2. Natural Sciences and Engineering Research Council of Canada

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NGS-SNP is a collection of command-line scripts for providing rich annotations for SNPs identified by the sequencing of whole genomes from any organism with reference sequences in Ensembl. Included among the annotations, several of which are not available from any existing SNP annotation tools, are the results of detailed comparisons with orthologous sequences. These comparisons can, for example, identify SNPs that affect conserved residues, or alter residues or genes linked to phenotypes in another species.

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