Description
CopySeq revealed that OR loci show an extensive range of locus copy-numbers across individuals, with zero to two copies in some OR loci, and two to nine copies in others.
Among genetic variants affecting OR loci we identified deleterious variants including CNVs and SNPs affecting ~15% and ~20% of the human OR gene repertoire, respectively, implying that genetic variants with a possible impact on smell perception are widespread.
CopySeq can ascertain genomic structural variation in specific gene families as well as at a genome-wide scale, where it may enable the quantitative evaluation of CNVs in genome-wide association studies involving high-throughput sequencing.
CopySeq is developed using the Java programming language and can be run on Mac OS X, Windows and Linux.
User Reviews for CopySeq FOR MAC 1
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for CopySeq FOR MAC
CopySeq FOR MAC offers valuable insights into genetic variants affecting OR loci with extensive copy-number ranges, enhancing genomic research possibilities.