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, 00:43, 17 June 2014
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| === Did I find interesting variants? === | | === Did I find interesting variants? === |
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− | The region we selected contains ''APOL1'' gene, which is known to play an important role in kidney diseases such as nephrotic syndrome. One of the risk allele, <code>rs73885139</code> located at position <code>22:36661906</code> increases the risk of nephrotic syndrome by >3-folds. Let's see if we found the interesting variant by looking at the VCF file by position. | + | The region we selected contains ''APOL1'' gene, which is known to play an important role in kidney diseases such as nephrotic syndrome. One of the non-synonymous risk allele, <code>rs73885139</code> located at position <code>22:36661906</code> increases the risk of nephrotic syndrome by >2-folds. Let's see if we found the interesting variant by looking at the VCF file by position. |
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| $GC/bin/tabix $OUT/vcfs/chr22/chr22.filtered.vcf.gz 22:36661906 | head -1 | | $GC/bin/tabix $OUT/vcfs/chr22/chr22.filtered.vcf.gz 22:36661906 | head -1 |
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| Did you see a variant at the position? | | Did you see a variant at the position? |